(used for variant description)
(last modified August 13, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001101802.1 in the PHF21A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering PHF21A transcript NM_001101802.1.
(upstream sequence)
. . g.5024
ggtgaatgggctggtggtgctcgc c.-601
. . . . . . g.5084
tgctgctgctgagaggaggaggaggatgaagagttgggcttgtttgtctcctacagtttc c.-541
. . . . . . g.5144
tctcctgctgctctgattcccccctcccgattccggcccggggcctgtgtgtgtccctcc c.-481
. . . . . . g.5204
tggaggaggaggaggatccagttcctccccccaaccccctcctccccacccccccttgcc c.-421
. . . . . . g.5264
tggggaagaggaggaaagaaacagcccagagagagagagagagagagagtgagtgagaga c.-361
. . . . . . g.5324
gagaggagaggagaggaggaggaggaggagggagaagggaacaacctaccatcttaacac c.-301
. . . . . . g.5384
actaatatctaaaaagtgcgagaggcccagagcagcagcagaagcagcagcagcagctcc c.-241
. . . . . . g.5444
agcttcttccctccctccccatgaagaagagttccctcctcctcctcctcctgcttctcc c.-181
. . . . . . | 02 g.34215
tgctcagagttcctgcctccagctgccaggggggacagccagccagcagcaggagg | gggg c.-121
. . . . | 03 . . g.42155
ctagagagctgaaggagagccagtttccccaaaattg | ctgcagtgagaagaggagtttgt c.-61
. . . . . . g.42215
tactttaaacagaggctgaagaaactatagaattagcagagaaagtggagaaggtagagg c.-1
. . . . . | 04 . g.47274
ATGGAGTTGCAGACTCTACAGGAGGCTCTTAAAGTGGAAATTCAGGTTCACCAG | AAACTG c.60
M E L Q T L Q E A L K V E I Q V H Q | K L p.20
. . | 05. . . . g.49648
GTTGCTCAAATGAAGCAGGATCCACAG | AATGCTGACTTAAAGAAACAGCTTCATGAACTC c.120
V A Q M K Q D P Q | N A D L K K Q L H E L p.40
. . . | 06 . . . g.146495
CAAGCCAAAATCACAGCTTTGAGTGAGAAACAG | AAAAGAGTAGTTGAACAGCTACGGAAG c.180
Q A K I T A L S E K Q | K R V V E Q L R K p.60
. . . . . . g.146555
AACCTGATAGTAAAGCAAGAACAACCGGACAAGTTCCAAATACAGCCATTGCCACAATCT c.240
N L I V K Q E Q P D K F Q I Q P L P Q S p.80
. . . . . . g.146615
GAAAACAAACTACAAACAGCACAGCAGCAACCACTACAGCAACTACAACAACAGCAGCAG c.300
E N K L Q T A Q Q Q P L Q Q L Q Q Q Q Q p.100
. . . . . . g.146675
TACCACCACCACCACGCCCAGCAGTCAGCTGCAGCCTCTCCCAACCTGACTGCTTCACAG c.360
Y H H H H A Q Q S A A A S P N L T A S Q p.120
| 07 . . . . . . g.155127
| AAGACTGTAACTACAGCTTCTATGATTACCACAAAGACACTACCTCTCGTCTTGAAAGCA c.420
| K T V T T A S M I T T K T L P L V L K A p.140
. . . . . . g.155187
GCAACTGCGACCATGCCTGCCTCTGTGGTGGGCCAGAGACCTACCATTGCTATGGTGACC c.480
A T A T M P A S V V G Q R P T I A M V T p.160
. . . . . . g.155247
GCCATCAACAGTCAGAAGGCTGTGCTCAGCACTGATGTGCAGAACACACCAGTCAACCTC c.540
A I N S Q K A V L S T D V Q N T P V N L p.180
. . . . . . g.155307
CAGACGTCTAGTAAGGTCACTGGGCCTGGGGCAGAGGCTGTCCAAATTGTGGCAAAAAAC c.600
Q T S S K V T G P G A E A V Q I V A K N p.200
. | 08 . . . . . g.156581
ACAGTCACTCTG | GTTCAGGCAACACCTCCTCAGCCCATCAAAGTACCACAGTTTATCCCC c.660
T V T L | V Q A T P P Q P I K V P Q F I P p.220
. . . | 09 . . g.160847
CCTCCTAGACTCACTCCACGTCCAAACTTTCTTCCACAG | GTTCGACCCAAGCCTGTGGCC c.720
P P R L T P R P N F L P Q | V R P K P V A p.240
. . . . . . g.160907
CAGAATAACATTCCTATTGCCCCAGCACCACCTCCCATGCTCGCAGCTCCTCAGCTTATC c.780
Q N N I P I A P A P P P M L A A P Q L I p.260
. . . . . . g.160967
CAGAGGCCCGTCATGCTGACCAAGTTCACCCCCACAACCCTTCCCACATCCCAGAATTCC c.840
Q R P V M L T K F T P T T L P T S Q N S p.280
. . . . . . g.161027
ATCCACCCCGTCCGTGTCGTCAATGGGCAGACTGCAACCATAGCCAAAACGTTCCCCATG c.900
I H P V R V V N G Q T A T I A K T F P M p.300
. . . . . . g.161087
GCCCAGCTCACCAGCATTGTGATAGCTACTCCAGGGACCAGACTCGCTGGACCTCAAACT c.960
A Q L T S I V I A T P G T R L A G P Q T p.320
. . . | 10 . . . g.172836
GTACAGCTTAGCAAGCCAAGTCTTGAAAAACAG | ACAGTTAAATCTCACACAGAAACAGAT c.1020
V Q L S K P S L E K Q | T V K S H T E T D p.340
. . . . . . g.172896
GAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAG c.1080
E K Q T E S R T I T P P A A P K P K R E p.360
. | 11 . . . . . g.176225
GAGAACCCTCAG | AAACTTGCCTTCATGGTGTCTCTAGGGTTGGTAACACATGACCATCTA c.1140
E N P Q | K L A F M V S L G L V T H D H L p.380
| 12 . . . . . . g.177009
GAAG | AAATCCAAAGCAAGAGGCAAGAGCGAAAAAGAAGAACAACAGCAAATCCGGTCTAC c.1200
E E | I Q S K R Q E R K R R T T A N P V Y p.400
. . | 13 . . . . g.177524
AGTGGAGCAGTCTTTGAGCCAGAG | CGTAAGAAGAGTGCAGTGACATACCTAAACAGCACA c.1260
S G A V F E P E | R K K S A V T Y L N S T p.420
. . | 14 . . . . g.180466
ATGCACCCTGGGACCCGGAAGAGAG | GTCGTCCTCCAAAATACAATGCAGTGCTGGGGTTT c.1320
M H P G T R K R G | R P P K Y N A V L G F p.440
. . . . . . g.180526
GGAGCCCTTACCCCAACATCCCCCCAATCCAGTCATCCTGACTCCCCTGAAAATGAAAAG c.1380
G A L T P T S P Q S S H P D S P E N E K p.460
. . . . . . g.180586
ACAGAGACCACATTCACTTTCCCTGCACCTGTTCAGCCTGTGTCCCTGCCCAGCCCCACC c.1440
T E T T F T F P A P V Q P V S L P S P T p.480
| 15 . . . . . g.188173
TCCACAGAC | GGTGATATTCATGAGGATTTTTGCAGCGTTTGCAGAAAAAGTGGCCAGTTA c.1500
S T D | G D I H E D F C S V C R K S G Q L p.500
. . . . . . g.188233
CTGATGTGCGACACATGTTCCCGTGTATATCATTTGGACTGCTTAGACCCCCCTCTGAAA c.1560
L M C D T C S R V Y H L D C L D P P L K p.520
. . . . | 16 . . g.189880
ACAATTCCCAAGGGCATGTGGATCTGTCCCAGATGTCAGGACCAG | ATGCTGAAGAAGGAA c.1620
T I P K G M W I C P R C Q D Q | M L K K E p.540
. . . . . . g.189940
GAAGCAATTCCATGGCCTGGAACTTTAGCAATTGTTCATTCCTATATTGCCTACAAAGCA c.1680
E A I P W P G T L A I V H S Y I A Y K A p.560
| 17 . . . . . . g.190754
G | CAAAAGAAGAAGAGAAACAGAAGTTACTTAAATGGAGTTCAGATTTAAAACAAGAACGA c.1740
A | K E E E K Q K L L K W S S D L K Q E R p.580
. . . . | 18 . . g.192224
GAACAACTAGAGCAAAAGGTGAAACAGCTCAGCAATTCCATAAGT | AAATGCATGGAAATG c.1800
E Q L E Q K V K Q L S N S I S | K C M E M p.600
. . . . . . g.192284
AAGAACACCATCCTGGCCCGGCAGAAGGAGATGCACAGCTCCCTGGAGAAGGTAAAACAG c.1860
K N T I L A R Q K E M H S S L E K V K Q p.620
. . . . . . g.192344
CTGATTCGCCTCATCCACGGCATCGACCTCTCCAAACCTGTAGACTCTGAGGCCACTGTG c.1920
L I R L I H G I D L S K P V D S E A T V p.640
. . . . . . g.192404
GGGGCCATCTCCAATGGCCCGGACTGCACCCCCCCTGCCAATGCCGCCACCTCCACGCCG c.1980
G A I S N G P D C T P P A N A A T S T P p.660
. . . . . . g.192464
GCCCCTTCCCCCTCCTCCCAGAGCTGCACAGCGAACTGTAACCAGGGGGAAGAGACTAAA c.2040
A P S P S S Q S C T A N C N Q G E E T K p.680
g.192467
TAA c.2043
X p.680
. . . . . . g.192527
cagagcccctctaggagaagccacgggatcccggcggcaaggagaacagaacactgaaga c.*60
. . . . . . g.192587
ctctagaaaagcaaagccggatttctggaaagtgcagaattcttttggttctttggttcc c.*120
. . . . . . g.192647
agagagagagaagatgcttgtgccaggtggcaccagagtttgccaattgatccttcttat c.*180
. . . . . . g.192707
tctgtgtgtacatgcaaagattggaccatgttacatgaaatagtgccagctggaggttct c.*240
. . . . . . g.192767
ttgccagcaccatgccaagtgaaataatatatttactctctctattatacaccagtgtgt c.*300
. . . . . . g.192827
gcctgcagcagcctccacagccacgatgggtttgtttctgttttcttgggtggggagcag c.*360
. . . . . . g.192887
ggacgggcggagggaggagagcaggtttcagatccttacttgccgagccgtttgtttagg c.*420
. . . . . . g.192947
tagagaagacaagtccaaagagtgtgtgggctttcctgtttctaaactttcgctactata c.*480
. . . . . . g.193007
aaaccaaaaaaaggaattgagatttcaccaaccccagtgcccagaagagggaaggggagt c.*540
. . . . . . g.193067
ggctggagggagcagggggtgggacagtgtatcaaataagcagtatttaatcacctctgg c.*600
. . . . . . g.193127
cgggggcctcgtgcaaggggagactgacaccaagaacagccagtaggttcttctcccctg c.*660
. . . . . . g.193187
cactctgctccctgcgcggtaaccccaccactcctgaagcctgcccagtctccttccttc c.*720
. . . . . . g.193247
cctgcttggtgagtcgcgcatctccgtggttatcccgctgtctcctctccaagaacaagc c.*780
. . . . . . g.193307
agagcccgggccactggcccttgcccaaggcagggaagaaggatgtgtgtgtccaggaag c.*840
. . . . . . g.193367
gaaaaaaaggtggatcagtgattttacttgaaaacaagctccatcccttttctatattta c.*900
. . . . . . g.193427
taagaagagaagatcttgagtgaagcagcacgcgacccaggtgtgtgtgaattgaatgga c.*960
. . . . . . g.193487
gacgtttcttttctctttctttaatttttgtttttgttctttttttctttaaggaaagtt c.*1020
. . . . . . g.193547
ttattttactgttcattttactttcttggtaacaaaaactaaaataaggaatagaaaagc c.*1080
. . . . . . g.193607
tgtttttcaggctgacagtccaattaagggtagccaagaccttgcatggtagagtaggaa c.*1140
. . . . . . g.193667
tcatagtgtcagtgaggtcccgtgagtctttgtgagtccttgtgtcatcgttcgggcact c.*1200
. . . . . . g.193727
gtttttttatgcaagggcaaaaatctttgtatctggggaaaaaaaacttttttttaaatt c.*1260
. . . . . . g.193787
aaaaaggaaaataaaagatattgaggtcttcctagtgttacttaaattaagatcaaggta c.*1320
. . . . . . g.193847
agaaacattgtaaaaaaaaattacaaaagtgctatttgtttcctaaaaacagtgatttct c.*1380
. . . . . . g.193907
attaaaaaggtgtcagaactggagaaaatgccgtgtagttataattttttagcacagacc c.*1440
. . . . . . g.193967
ctgctgatcacgatgacattttgccgtgtgtgtgtctctagactggtgggccagtctcct c.*1500
. . . . . . g.194027
tgaaggacagaggcggagctccccacccttctctctcctcagaaaagaccgtgctctctt c.*1560
. . . . . . g.194087
cttggtgcagggatcttgtctcctgttgtgaagcccaaatggaagcgtggatggtatcag c.*1620
. . . . . . g.194147
ggccctacccgtggtcttctcagattctgctagagcaaaaggctggtgcctaaataagat c.*1680
. . . . . . g.194207
cccttcctttggtgctgcttttggtctttcagccaccagcattatgagtgcctgggggac c.*1740
. . . . . . g.194267
acctccgagggaactggccagcggagctctgtggtgcgcacgcaccctggccgtgacagg c.*1800
. . . . . . g.194327
agggtgcgggagtacaggctggctgcatcagcccttggtgcttagaacagaggaggagtg c.*1860
. . . . . . g.194387
acatgttttgagggtacgtctctgagacagagccccagcgtggccttcgctctgtcttgc c.*1920
. . . . . . g.194447
ctttggggagaggtctgaagctcccactcctttctctgcctgttggctccaggcaccaga c.*1980
. . . . . . g.194507
aatttactccactccacccacccacaagcctcctgggtgaccctgggctagaattgctgc c.*2040
. . . . . . g.194567
gcttgcctcggcttggccggttgtggcctctccttgagaaaaccagggttgtgaaagact c.*2100
. . . . . . g.194627
cagaccattctctcatcttgccttgtcagaagtaaattgtgtcagatttgtgctctcgct c.*2160
. . . . . . g.194687
ggagacctttgccccttgcgtgcccctggccgatgggagggcggtggaggctctgtaccc c.*2220
. . . . . . g.194747
tggccctgctggagcatctcccccaagcccactccaggccctgggaatggccagagtcta c.*2280
. . . . . . g.194807
ggagaggtagaaacgatcctatcagcttctctcccacccaattaggcccagagagacaaa c.*2340
. . . . . . g.194867
gacagatctgaaagcaaatgcaacagagaagagacacttcttagagtaaaatgtgtctca c.*2400
. . . . . . g.194927
tctctatcagccatcgcctttcatcttcccaggggcctcagaagaaggaattaagttagg c.*2460
. . . . . . g.194987
ctgaacaggcctcagagttaggccctggctgcttgattggctgagggggaaagagttccc c.*2520
. . . . . . g.195047
ttttctcattcagaaaccaaggtgctgtgtctagtcagggagccttggagatgcctggac c.*2580
. . . . . . g.195107
tagttggaggaatcgttggcagaggatcagagaccagcagcaggctgtctgccctgtcta c.*2640
. . . . . . g.195167
gagctcttcccctcaacttgtctgggcccatctgggggttgccacacaacacctaactta c.*2700
. . . . . . g.195227
ccttttcctgaaagaagttgggaaaccatcatcactagaggcctttgctcagagaggagc c.*2760
. . . . . . g.195287
tgccttaggagtcttgggtcggaggacggggctaggaattgaccagggctttgcctgccg c.*2820
. . . . . . g.195347
ccctcagcagtgtcgggtacattctgacctcgcctgcagctgggctgtggattcttcctg c.*2880
. . . . . . g.195407
acattcagatgtgagctgttttgggagtcagctagtatggagtacgagatgcaacccagc c.*2940
. . . . . . g.195467
ccccaaacctacattctgcactcaaattccaaaacactgctttactgtaaagaagaggcc c.*3000
. . . . . . g.195527
cctggcacccaatctccctgtccttcactgtcccctcagacctgggcggggagggggggg c.*3060
. . . . . . g.195587
ggcctgtgaccacctgagacatacgctcgtgacactgccccaccccagccacctccactt c.*3120
. . . . . . g.195647
gcttcctcctccttccctccgctgctctttccccacggcccagaatttagctgctctgac c.*3180
. . . . . . g.195707
agccacttttgagaccagctggctttgtagtcacttcagagagctggagcggctgcccac c.*3240
. . . . . . g.195767
tgggccctgactgggagtcccctgccagctcctgatcaggcgctgcgccctggtggcagt c.*3300
. . . . . . g.195827
gatgactgggagtcccctgccagctcctgtccaggcgctgcatcctggtaacagtgaggc c.*3360
. . . . . . g.195887
catgttgctgtcatctccacctctgcattcttgctgcctgtgggtcctttttctttcatg c.*3420
. . . . . . g.195947
gagcctgctgggtcttgtctcacctgtgctgagctcctctggggttttgatttcttcctt c.*3480
. . . . . . g.196007
ccttatcaggccctttggggtaagcctgctggttgtacctgacatagggaggcagttagg c.*3540
. . . . . . g.196067
ggcagtccctggtggggccgccctggcagcctccagctggcaccatcgtgtgcctggttt c.*3600
. . . . . . g.196127
ccctgcaacacctgcctctctgtccctgctgctgcttggctcaggcccaacaggcagcgt c.*3660
. . . . . . g.196187
gcatggaggtggttacacacagctgtttccgtgagggtgaccgtgtctgcagcacgcttc c.*3720
. . . . . . g.196247
cgtctccgcatgcacggctgcctctccagccacctctgatacttctctcttggggccatc c.*3780
. . . . . . g.196307
agagcctcccttgggctgtcacctcccagctcacacacactcttcagtggtttcctctct c.*3840
. . . . . . g.196367
tcattctcttatagggcgtggtccttcttatttatctaaagggctgaatttaggagactt c.*3900
. . . . . . g.196427
tttacccaggggcaaaaggctcttagggtaatgagatggatggtggcccaggtgcatttt c.*3960
. . . . . . g.196487
ccagggcctgggttctccagatcccgtggcttctgttgagtggaggcaactttgctctgt c.*4020
. . . . . . g.196547
gtgaacctcgcccctgtccctctgccgggcacccctggcaggaagcaggactcccatcct c.*4080
. . . . . . g.196607
caccctgacttagactgtcctctgagtcagctcctctccaagacaggagtgggcagccct c.*4140
. . . . . . g.196667
gggcagtcttctggccccttgctaaagtgaggggcaggaagctggggctgccctccagaa c.*4200
. . . . . . g.196727
agccggggtaggaactctgaaaaatacctcctctaaacggaagcagggctctccagttcc c.*4260
. . . . . . g.196787
acttggcgccccctcccacaaggcccttcctccctgaggaccccacccccctaccccttc c.*4320
. . . . . . g.196847
cccagcagcctttggaccctcacctctctccggtgtccgtgggtcctcagcccagggtga c.*4380
. . . . . . g.196907
gctgcagtcaggcgggatgggacgggcaggccagaggtcagccagctcctagcagagaag c.*4440
. . . . . . g.196967
agccagccagaccccaaccctgtctcttgtccatgccctttgtgatttcagtcttggtag c.*4500
. . . . . . g.197027
acttgtatttggagttttgtgcttcaaagtttttgtttttgtttgtttggtttttgtttt c.*4560
. . . . . . g.197087
gagggggtggggggggatacagagcagctgatcaatttgtatttatttattttaacattt c.*4620
. . g.197116
tactaaataaagccaaataaagcctctca c.*4649
(downstream sequence)
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