(used for variant description)
(last modified February 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_022098.3 in the XPNPEP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028221.1, covering XPNPEP3 transcript NM_022098.3.
(upstream sequence)
. . . . g.5041
ggaggtgcggctggcccggtttcctggcgacgcggccctgc c.-61
. . . . . . g.5101
aggcggttgcgttccccgtcgttaccctctttctcttcccgacgcgtgagttaggccgta c.-1
. . . . . . g.5161
ATGCCTTGGCTGCTCTCAGCCCCCAAGCTGGTTCCCGCTGTAGCAAACGTCCGCGGCCTC c.60
M P W L L S A P K L V P A V A N V R G L p.20
| 02 . . . . . . g.16974
TCAG | GATGTATGTTGTGTTCACAGCGAAGGTACTCCCTTCAGCCTGTCCCAGAAAGGAGG c.120
S G | C M L C S Q R R Y S L Q P V P E R R p.40
. . . . . . g.17034
ATTCCAAACCGATACTTAGGCCAGCCCAGCCCCTTTACACACCCACACCTCCTCAGACCA c.180
I P N R Y L G Q P S P F T H P H L L R P p.60
| 03 . . . . . . g.29748
G | GGGAGGTAACTCCAGGACTATCTCAGGTGGAATATGCACTTCGCAGACACAAACTAATG c.240
G | E V T P G L S Q V E Y A L R R H K L M p.80
. . . . . . g.29808
TCTCTGATCCAGAAGGAAGCTCAAGGGCAGAGTGGGACAGACCAGACAGTGGTTGTGCTC c.300
S L I Q K E A Q G Q S G T D Q T V V V L p.100
. . . . . . g.29868
TCCAACCCTACATACTACATGAGCAACGATATTCCCTATACTTTCCACCAAGACAACAAT c.360
S N P T Y Y M S N D I P Y T F H Q D N N p.120
. . . . . . g.29928
TTCCTGTACCTATGTGGATTCCAAGAGCCTGATAGCATTCTTGTCCTTCAGAGCCTCCCT c.420
F L Y L C G F Q E P D S I L V L Q S L P p.140
. . . . . . g.29988
GGCAAACAATTACCATCACACAAAGCCATACTTTTTGTGCCTCGGCGAGATCCCAGTCGA c.480
G K Q L P S H K A I L F V P R R D P S R p.160
. . . . . . g.30048
GAACTTTGGGATGGTCCGCGATCTGGCACTGATGGAGCAATAGCTCTAACTGGAGTAGAC c.540
E L W D G P R S G T D G A I A L T G V D p.180
. . . . | 04 . g.34243
GAAGCCTATACGCTAGAAGAATTTCAACATCTTCTACCAAAAATGAAAG | CTGAGACGAAC c.600
E A Y T L E E F Q H L L P K M K A | E T N p.200
. . . . . . g.34303
ATGGTTTGGTATGACTGGATGAGGCCCTCACATGCACAGCTTCACTCTGACTATATGCAG c.660
M V W Y D W M R P S H A Q L H S D Y M Q p.220
. . . . . . g.34363
CCCCTGACTGAGGCCAAAGCCAAGAGCAAGAACAAGGTTCGGGGTGTTCAGCAGCTGATA c.720
P L T E A K A K S K N K V R G V Q Q L I p.240
. . . . . . g.34423
CAGCGCCTCCGGCTGATCAAGTCTCCTGCAGAAATTGAACGAATGCAGATTGCTGGGAAG c.780
Q R L R L I K S P A E I E R M Q I A G K p.260
. | 05 . . . . . g.55554
CTGACATCACAG | GCTTTCATAGAAACCATGTTCACCAGTAAAGCCCCTGTGGAAGAAGCC c.840
L T S Q | A F I E T M F T S K A P V E E A p.280
. | 06 . . . . . g.57086
TTTCTTTATGCTAAG | TTTGAATTTGAATGCCGGGCTCGTGGCGCAGACATTTTAGCCTAT c.900
F L Y A K | F E F E C R A R G A D I L A Y p.300
. . . . . . g.57146
CCACCTGTGGTGGCTGGTGGTAATCGGTCAAACACTTTGCACTATGTGAAAAATAATCAA c.960
P P V V A G G N R S N T L H Y V K N N Q p.320
| 07 . . . . . g.62209
CTCATCAAG | GATGGGGAAATGGTGCTTCTGGATGGAGGTTGTGAGTCTTCCTGCTATGTG c.1020
L I K | D G E M V L L D G G C E S S C Y V p.340
. . . | 08 . . . g.70277
AGTGACATCACACGTACGTGGCCAGTCAATGGCAG | GTTCACCGCACCTCAGGCAGAACTC c.1080
S D I T R T W P V N G R | F T A P Q A E L p.360
. . . . . . g.70337
TATGAAGCCGTTCTAGAGATCCAAAGAGATTGTTTGGCCCTCTGCTTCCCTGGGACAAGC c.1140
Y E A V L E I Q R D C L A L C F P G T S p.380
. . . . . . g.70397
TTGGAGAACATCTACAGCATGATGCTGACCCTGATAGGACAGAAGCTTAAAGACTTGGGG c.1200
L E N I Y S M M L T L I G Q K L K D L G p.400
. . . | 09 . . . g.72305
ATCATGAAGAACATTAAGGAAAATAATGCCTTCAAG | GCTGCTCGAAAATACTGTCCTCAT c.1260
I M K N I K E N N A F K | A A R K Y C P H p.420
. . . . . . g.72365
CATGTTGGCCACTACCTCGGGATGGATGTCCATGACACTCCAGACATGCCCCGTTCCCTC c.1320
H V G H Y L G M D V H D T P D M P R S L p.440
. . . | 10. . . g.74211
CCTCTGCAGCCTGGGATGGTAATCACAATTGAGCCCG | GCATTTATATTCCAGAGGATGAC c.1380
P L Q P G M V I T I E P G | I Y I P E D D p.460
. . . . . . g.74271
AAAGATGCCCCAGAGAAGTTTCGGGGTCTTGGTGTACGAATTGAGGATGATGTAGTGGTG c.1440
K D A P E K F R G L G V R I E D D V V V p.480
. . . . . . g.74331
ACTCAGGACTCACCTCTCATCCTTTCTGCAGACTGTCCCAAAGAGATGAATGACATTGAA c.1500
T Q D S P L I L S A D C P K E M N D I E p.500
. . g.74355
CAGATATGCAGCCAGGCTTCTTGA c.1524
Q I C S Q A S X p.507
. . . . . . g.74415
ccttcactgcggcccacatgcacctcaggttcaaaatgggtgtcttctggcagccctgca c.*60
. . . . . . g.74475
cgtgtgctttctgagtgtctctgtgtgtgcattaatatatgcattccatttgggagcata c.*120
. . . . . . g.74535
gcagctgtgtgaatgtatgtaattgtgtgtggggggttttttgttttaagtagttagaag c.*180
. . . . . . g.74595
tctgggaaaatgaatttttgaatagtatgttactgcagctttggtaacattaattctata c.*240
. . . . . . g.74655
gaattaatgatcagagcaagtttaatttttaaacataaaggtcttggttacacatgtcca c.*300
. . . . . . g.74715
tgcattccagttaacacatttaaacatatagaaaattcacttcttctttcaagtccttcc c.*360
. . . . . . g.74775
ctttctatacttttgctgagatcaacccaatatcataagaagtttgtgtgatgcctgtat c.*420
. . . . . . g.74835
ttttagctaattaccaaggtctctgcctatgcaaaaattcatctttcggtgattgtgggc c.*480
. . . . . . g.74895
ggccaatacataccttctgtaactcctccctacctattctagatcctgcatatctactgg c.*540
. . . . . . g.74955
agccatatgagccctcaggggcactggtgtcctgcagtcttactagtcagccacagtcca c.*600
. . . . . . g.75015
ggttccagcaacactagctacctaccaaacaaaacacttctgagcttttcttgccatttg c.*660
. . . . . . g.75075
gttgcctgggacctggaaagtgtttagattcttgataaagatggaaatggaagagaaaga c.*720
. . . . . . g.75135
aaattatatatgtatatactaaagatccagacatcagggctgggcacagcggttccgcct c.*780
. . . . . . g.75195
gtaatcccagcactttgggaggtccaggcaggtggatctcttgagaccaggaggtcaaga c.*840
. . . . . . g.75255
ccagcctggccaacgtggtgaaacactgtctctactaaaaatacaaaaatgagctgggtg c.*900
. . . . . . g.75315
tgatgatacatgcctgtaatcctggctacttgggaggctgaggcatgagaattgcttgaa c.*960
. . . . . . g.75375
cctgggaggtggaggttgcagtgagctgagctcatgcgactgcactccagcctgggtgac c.*1020
. . . . . . g.75435
tgagcaagactctgcctcaaaaaaacaaataaataaataaaatcctgacatcctgccatc c.*1080
. . . . . . g.75495
ttttctcttcaatttaaagttgatttcttaatgatgacttcaaaaattaataaaaagaaa c.*1140
. . . . . . g.75555
agaaaaaaatgatttctggccgggcgtggtggctcaagcctgtaatcccagcactttggg c.*1200
. . . . . . g.75615
aggccgaggtgggcggatcacgaggtcaggagattgagacctcctggctaacacggtgaa c.*1260
. . . . . . g.75675
accccgtctttactaaaaatacaaaaaaaattagctgggcgtggtggcggatgcctgtag c.*1320
. . . . . . g.75735
tcccagctactcaggaggctgaggcaggagaatggcgtgaacccagaaggcagagcttgc c.*1380
. . . . . . g.75795
agtgagccaagatcgcgccactgcactccagcctgggtgacagagcgagactccgtctca c.*1440
. . . . . . g.75855
aaaaaaaaaaaaaaaaagaaaaaaaaaagaaagatttctttcgcagatatccctgctccc c.*1500
. . . . . . g.75915
tctatagattcttaatgcactgaccctcacaggttacccttttagctgttgtgctgcgca c.*1560
. . . . . . g.75975
ggagcagatcctctacttacgtaccctgtcagagtcacagtagtagcgcccagttttcag c.*1620
. . . . . . g.76035
agaagtacccctgttatcattctgtgatttcctctagtgctaatagaaacaaaatatgga c.*1680
. . . . . . g.76095
atctaccaagtacccgtaaatatcctatgattcttatctttctttgatactagcactggg c.*1740
. . . . . . g.76155
agtgcagtggtaaagagtcatacttcttttttttttttttttttggagacagagtctcgc c.*1800
. . . . . . g.76215
tctgtcgcctgggctggatggagtgcagtggcgtaatctcagctcactacaacctccacc c.*1860
. . . . . . g.76275
acctgggttcaggcaattctcctgcctcagcctcccaagtaactgggactacaggtgcac c.*1920
. . . . . . g.76335
gctgccatgcccagctaattttttgtattttagtagagacagggtttcaccctgttgccc c.*1980
. . . . . . g.76395
aggccggtctcaaactcctgagctccggcaatccgcccacctcagcctcccaaagtgcta c.*2040
. . . . . . g.76455
ggattacaggcatgagccactgcgcccggtgtaagagtcatatttttttaaacacaaaca c.*2100
. . . . . . g.76515
ttggatacaattatacagcaactcagtttgcaagatgaacagggctagattaccacagat c.*2160
. . . . . . g.76575
agcttatttaggagcgtctgtgatagagggaagctttaagaaccagtgtgttcacctcct c.*2220
. . . . . . g.76635
ttaaacctggatatgaggtcaagatgtataaaacatgccaattgttagaacacaaatttg c.*2280
. . . . . . g.76695
agggtttcttaaaaaaacaatttgtattagggaagcacaagctaggggattaacaatctc c.*2340
. . . . . . g.76755
tgtaatgctggaagtttgcctatcttatcagggaaacccagggtacagagtgaaaagcag c.*2400
. . . . . . g.76815
acaggcagtgacttcctcaagagacagataatgtgaaaacaaaagtgatacaaatcatat c.*2460
. . . . . . g.76875
cctgacagtgctagcctaggaatgcctggctttgcgcaccttatctaagcagctctcaga c.*2520
. . . . . . g.76935
atggaggctgcacagctggagtctccatcccccatacccaccttcccacctccctccaat c.*2580
. . . . . . g.76995
ttctcaatccagagctttttaaaaaaaggggagggaaataactccacagctctggctgct c.*2640
. . . . . . g.77055
cacttcccaggctctgtgcccccaacagccctttccttggattgtgtttcctttgttcat c.*2700
. . . . . . g.77115
ttgtaatccaggaataaggaatttccttttcttcttgtatcattttcttttcttttcttt c.*2760
. . . . . . g.77175
ttttttttttttttgagacggagtctcacactgtcaccggggctggtgtgcaatagcgag c.*2820
. . . . . . g.77235
acctcagctccctgcaacctccatctcccaggttcaagcgattctcctgcctcagcctcc c.*2880
. . . . . . g.77295
cgaatagctaggaatacaggcgcctgccaccacacccggctatttttttgtattttaaat c.*2940
. . . . . . g.77355
agagacgaggtttcactgtgttggccaggctggtctcgaactcctgacctcatgatctgc c.*3000
. . . . . . g.77415
ccgcctcggcctccctaagtgctgcgattacagacgtgagccaccgcacctcctgtatca c.*3060
. . . . . . g.77475
ttttctatggtctaaacttttctagctaaaagcctaggtagcttgtatgtatagcagcat c.*3120
. . . . . . g.77535
acttggacatgaaacacacttctggttagattccagtcaagttctataggtgttattggt c.*3180
. . . . . . g.77595
aggcagaaaggctgttgtagaattcttctggtgattttcagtccctgacccaggtatatt c.*3240
. . . . . . g.77655
gtcctttgagtcccagattaactaactatagcagctaagcatttgaatcagacttctcat c.*3300
. . . . . . g.77715
agcaatgttatgggctgtctgatatattcaggatttgttgagcagataagctgtgtgtga c.*3360
. . . . . . g.77775
tcttactcattctcagccatgccgcagacatacccatttccctttagtaattttttaata c.*3420
. . . . . . g.77835
cagagaatgctattaactgttactggatatcaaataattttatttttctaatagtatttt c.*3480
. . . . . . g.77895
ccaaatatttcttaaaattcttaaaatttaggttaaagtttgctggtctcttacatttaa c.*3540
. . . . . . g.77955
taaagctgggacttgaagacttaccatagttttcaactgcctttgcaagttcataaactt c.*3600
. . . . . . g.78015
ctaagggtaaaaagtgaataagataaattcagagttttaaggtaaaggctttatattagc c.*3660
. . . . . . g.78075
tttttttttttttaaaggttttttgtggggtttttttgttttttttttttttgagatgga c.*3720
. . . . . . g.78135
gtctcgctctgtcacccaggctggagtgcagtggcacgatcttggctcactgcaacctcc c.*3780
. . . . . . g.78195
atctcccgggttcaggcaattcttctgcctcagcctcctgagtagctgggactacaggcg c.*3840
. . . . . . g.78255
cgtgccaccatgcccggctagtttattgtatttttagtagagatggggttttactgtgtt c.*3900
. . . . . . g.78315
agccaggatggtctcaatctcctgacctcataatctgcccacctcagcctcccaaagtgc c.*3960
. . . . . . g.78375
tgggattacaggcgtgagccactgcacccagcctttttaaagtttttaattgacatataa c.*4020
. . . . . . g.78435
ttgtacgtatttacagggtaaataatgatgttttgatacatatataatgatcagatcaga c.*4080
. . . . . . g.78495
acaattagcatatccatcacattgaacatttatcatttatttgtgttgagcctttagttc c.*4140
. . . . . . g.78555
ttttttttttttgagatagagtctcactctgtcacccaggctggagtacagtggtgtgat c.*4200
. . . . . . g.78615
cttggctcactgcaacctccacccaccggcttcaaccaattctcctgcctcagcctccct c.*4260
. . . . . . g.78675
agtaactgggattacaggcacctgccaccacacccaatttttgtatttttagtagagacg c.*4320
. . . . . . g.78735
gggtttcaccatcttggccaggccaggctggtcttgatctcctgaccttgtgatccaccc c.*4380
. . . . . . g.78795
acctcagcttcccaaactgctgggattacaggcatgagccacggcccccagccagagaca c.*4440
. . . . . . g.78855
gtcttgctttgtcgccaggctggagtgtagtggcgccatcttggctcactgcaacctcca c.*4500
. . . . . . g.78915
actccctggttcaagcagttctcctgcctcagcctcccaagtagctgggattacaggcac c.*4560
. . . . . . g.78975
gcaccaccatgcccagctaatttttgtatttttagtagagacagggtttcaccatgttgg c.*4620
. . . . . . g.79035
ccaggatggtcttgatctcctgacctcgtgatctgcccactttggcctcccaaagtgctg c.*4680
. . . . . . g.79095
ggattacaggtgtgagccaccgtgcccagccgagcctttagttctaagtataataaataa c.*4740
. . . . . . g.79155
tatatataccaggcattcctattaaaaatcttaacttaaaaaaaattactcaaatgttac c.*4800
. . . . . . g.79215
tactggaatttttctccctgaattgaagatacatggttagatcattaacaataccaccta c.*4860
. . . . . . g.79275
aatgaaggaaacatatctggatatccagtgtcacatacttttatgtatttatttcaggaa c.*4920
. . . . . . g.79335
ttactattttgtcaccataattaggaaacagactgtgttctttatttgaaacacaacagt c.*4980
. . . . . . g.79395
ataaatactatagtaaagttgggtgcagtggatcacagctataatcccagcactttggga c.*5040
. . . . . . g.79455
gaccaaggagggatggtcacttgagcccaggagtttgagaccagcctaggcaacatagag c.*5100
. . . . . . g.79515
agaccttgtctcaacaaaaaaatttaaagttagccaggtgtggtggtttgcacctatagt c.*5160
. . . . . . g.79575
cccagctactcaggaggctgaggtgggaggatcgcttgagcttaggaggtcaaggctgca c.*5220
. . . . . . g.79635
gtgagccatgattgtgccacttcaccctgggcaacagagaaagaccctgtctcaataaaa c.*5280
. . . . . . g.79695
aagaagagaaaaactggagtgagaactctcctcctctcataatcatagtatccacgttag c.*5340
. . . . . . g.79755
gaaaatgcttctgagagtaacttaaagtactgtgtgtgcatcttccttcaaaaccttgct c.*5400
. . . . . . g.79815
tttttctccgtttttgtaaggtgagaaagggaaaaaccttcaccgtagaaatactgtctt c.*5460
. . . . . . g.79875
gagattaagatacaaataaaacatgttaaacctccatctaaagacattgcaacttattaa c.*5520
. . . . . . g.79935
aacagaaaaatgtacctttgttatgtctttccaaatatccacacccacaccctgttcagc c.*5580
. . . . . . g.79995
tttgttaataatacagagatcagaaatgtgaagcacaaatgctgcttctccccctcctgt c.*5640
. . . . . . g.80055
tcccatgtcagagatggagaagaaagcacagtgagctgttcaccagtccagcggtgacct c.*5700
. . . . . . g.80115
cggagtcctttgtaacagtgtttccaataacttctgccaataaaacagaatttgagttag c.*5760
. . . . . . g.80175
aacctatctgctgtccctcaactagtgtctgatagctgagaatgtaattcgtttgtgtgt c.*5820
. . . . . . g.80235
ctattagaaaattaggcaggcaccacagacagtagcaacataaaggaacctgcttagaag c.*5880
. . . . . . g.80295
aggtttttatggtgtgattgtgtttttttttttttaatttttgtttcctgaagtagaatc c.*5940
. . . . . . g.80355
catagctcaaaacaagttttaagcctgagaaaatataatttgaggtgttttttatgctcc c.*6000
. . . . . . g.80415
taatgaaaagatgaatgaatgcatcattaaaccttaacagtagagcagaatttcactgtt c.*6060
. . . . . . g.80475
acaaaccacatgggttctcctggttgtgctgctgttctctacctgtgtgtcactgagttt c.*6120
. . . . . . g.80535
gagcatcattattgtttgaatcagaggacccactggaatcaaggcttcttggaattgcgc c.*6180
. . . . . . g.80595
aagaatctgagaaaacttcaatctttaccagcatttcttaatgctttccatgacttttgt c.*6240
. . . . . . g.80655
gcaattatataagttcagtttagacaaaatgctgttactttttaaggcattactaataac c.*6300
. . . . . . g.80715
tgaaaatagttacgtcattgcccatcaagggaaaagcacttgtaactgtcatttaaaaaa c.*6360
. . g.80739
aataaaactataaaacaatataga c.*6384
(downstream sequence)
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