(used for variant description)
(last modified September 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002618.3 in the PEX13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008665.1, covering PEX13 transcript NM_002618.3.
(upstream sequence)
. . g.5023
gttgtgtcttacgctccaggtgc c.-61
. . . . . . g.5083
tggtctacgcgggcctggacagtcaggggtaggagcgggagccgagaggaggcggaggag c.-1
. . . . . . g.5143
ATGGCGTCCCAGCCGCCACCTCCCCCCAAACCCTGGGAGACCCGCCGAATTCCGGGAGCC c.60
M A S Q P P P P P K P W E T R R I P G A p.20
. . . | 02 . . . g.18770
GGACCGGGACCAGGACCGGGCCCCACTTTCCA | ATCTGCTGATTTGGGTCCTACTTTAATG c.120
G P G P G P G P T F Q | S A D L G P T L M p.40
. . . . . . g.18830
ACAAGACCTGGACAACCAGCACTTACCAGAGTGCCCCCACCTATTCTTCCAAGGCCATCA c.180
T R P G Q P A L T R V P P P I L P R P S p.60
. . . . . . g.18890
CAGCAGACAGGAAGTAGCAGTGTGAACACTTTTAGACCTGCTTACAGTTCATTTTCTTCT c.240
Q Q T G S S S V N T F R P A Y S S F S S p.80
. . . . . . g.18950
GGATATGGTGCCTATGGAAATTCATTTTATGGAGGCTATAGTCCTTATAGTTATGGATAT c.300
G Y G A Y G N S F Y G G Y S P Y S Y G Y p.100
. . . . . . g.19010
AATGGGCTGGGCTACAACCGCCTCCGTGTAGATGATCTTCCACCCAGTAGATTTGTTCAG c.360
N G L G Y N R L R V D D L P P S R F V Q p.120
. . . . . . g.19070
CAAGCTGAAGAAAGCAGCAGGGGTGCATTTCAGTCCATTGAAAGTATTGTGCATGCATTT c.420
Q A E E S S R G A F Q S I E S I V H A F p.140
. . . . . . g.19130
GCCTCTGTCAGTATGATGATGGATGCTACCTTTTCAGCTGTCTATAACAGTTTCAGGGCT c.480
A S V S M M M D A T F S A V Y N S F R A p.160
. . . . . . g.19190
GTATTGGATGTAGCAAATCACTTTTCCCGATTGAAAATACACTTTACAAAAGTGTTTTCA c.540
V L D V A N H F S R L K I H F T K V F S p.180
. . . . . . g.19250
GCTTTTGCATTGGTTAGGACTATACGGTATCTTTACAGACGGCTACAGCGGATGTTAGGT c.600
A F A L V R T I R Y L Y R R L Q R M L G p.200
. . . . . . g.19310
TTAAGAAGAGGCTCTGAGAATGAAGACCTCTGGGCAGAGAGTGAAGGAACTGTGGCATGC c.660
L R R G S E N E D L W A E S E G T V A C p.220
. . . . . . g.19370
CTTGGTGCTGAGGACCGAGCAGCTACCTCAGCAAAATCTTGGCCAATATTCTTGTTCTTT c.720
L G A E D R A A T S A K S W P I F L F F p.240
. . . . . . g.19430
GCTGTTATCCTTGGTGGTCCTTACCTCATTTGGAAACTATTGTCTACTCACAGTGATGAA c.780
A V I L G G P Y L I W K L L S T H S D E p.260
| 03. . . . . . g.33102
GTAACAG | ACAGCATCAACTGGGCAAGTGGTGAGGATGACCATGTAGTTGCCAGAGCAGAA c.840
V T D | S I N W A S G E D D H V V A R A E p.280
. . . . . . g.33162
TATGATTTTGCTGCCGTATCTGAAGAAGAAATTTCTTTCCGGGCTGGTGATATGCTGAAC c.900
Y D F A A V S E E E I S F R A G D M L N p.300
. | 04 . . . . . g.35842
TTAGCTCTCAAAG | AACAACAACCCAAAGTGCGTGGTTGGCTTCTGGCTAGCCTTGATGGC c.960
L A L K E | Q Q P K V R G W L L A S L D G p.320
. . . . . . g.35902
CAAACAACAGGACTTATACCTGCGAATTATGTCAAAATTCTTGGCAAAAGAAAAGGTAGG c.1020
Q T T G L I P A N Y V K I L G K R K G R p.340
. . . . . . g.35962
AAAACGGTGGAATCAAGTAAAGTTTCCAAGCAGCAACAATCTTTTACCAACCCAACACTA c.1080
K T V E S S K V S K Q Q Q S F T N P T L p.360
. . . . . . g.36022
ACTAAAGGAGCCACGGTTGCTGATTCTTTGGATGAACAGGAAGCTGCCTTTGAATCTGTT c.1140
T K G A T V A D S L D E Q E A A F E S V p.380
. . . . . . g.36082
TTTGTTGAAACTAATAAGGTTCCAGTTGCACCTGATTCCATTGGGAAAGATGGAGAAAAG c.1200
F V E T N K V P V A P D S I G K D G E K p.400
. g.36094
CAAGATCTTTGA c.1212
Q D L X p.403
. . . . . . g.36154
tatctttcatgtttgcctgcagttgaacaatactttagagtactttttaaaattatttct c.*60
. . . . . . g.36214
cacaaagaaatgaatgtacaatccaatgaaaacatttgttattggctatttcaggtgttt c.*120
. . . . . . g.36274
tgctgctagaaattattaaagttacacactagtatgttggtctggtgacctggttacatt c.*180
. . . . . . g.36334
ttattatacacattattggaccataaggacatttgtttcacctagattttaagattatgg c.*240
. . . . . . g.36394
agactgctgtcatttttatcttatttaaatctctaggtttattggaagagtaagattgat c.*300
. . . . . . g.36454
gaactatagcatgcacagtttggtacagtagagatcattaatacttttaaaagttctgca c.*360
. . . . . . g.36514
ttaattgacttggaatccttagaaatggagtggtgacatgtcagtatgagaacaggcaaa c.*420
. . . . . . g.36574
aggtaaatttttttttttttttacaaccttaagtaatctcaataataaaattttctgatc c.*480
. . . . . . g.36634
tgtattatatccagtgttgggtttatattttcacccacaaacaactgacactgctatctt c.*540
. . . . . . g.36694
ttactgtatttttaaaaatttaatttgaaaaggtcacccagaagcattctgaaggaaatg c.*600
. . . . . . g.36754
gttctagaattatagagtatgtagccctaatagttttccctcctagcaaaaagtctgaaa c.*660
. . . . . . g.36814
tttatctttcttacaaactgttccatttcttctaaggatcccttaattatttatctcttt c.*720
. . . . . . g.36874
aagccaggcatggtggctcacgcctgtaatcccagcactttgggaggctgaggcgggcag c.*780
. . . . . . g.36934
atcacctgaggttgggagttcaagaccaccctgaccaacatggagaaaccccatctttac c.*840
. . . . . . g.36994
gaaaaatacaaaattagctaggtgtggtggcacatgcctgtaatcccagctactcgggag c.*900
. . . . . . g.37054
gctgaggcaggagaattgcttgaaccccaggaggcggaggttacgctgagccggagatct c.*960
. . . . . . g.37114
cgccattgcacttcagcctgggcaacaaaagcgaaactccatctcaaaaaataaaattat c.*1020
. . . . . . g.37174
ttatttctttaaaatatgactagttttcatactgggtgaatcagaagtatatgaaaggta c.*1080
. . . . . . g.37234
tactttcttttcctacaacaaatacttgagttcttttgagtttgcacttaatgatataat c.*1140
. . . . . . g.37294
cagttataatagtaatttttaatattttcatagattgtttgcttctaccttgtgtaattt c.*1200
. . . . . . g.37354
tttaaattccatatttaggatgctctgtaaatattgaaaatgtgtcacattggatacatt c.*1260
. . . . . . g.37414
tttcttttaggtttagtttttactactgagacttatttatagtcttagtgctctattgcc c.*1320
. . . . . . g.37474
atttagaatatgataatcctcatgcctttaatctcagcactttgggaggccaaggcgggc c.*1380
. . . . . . g.37534
ggatcacctgcggtcaggagtttgagaccagcctggccaacacggtgaaaccctgtctct c.*1440
. . . . . . g.37594
actaaaaatacgaaaattagctgggtgcagtggcgtgcacctgtagtcccagctactcag c.*1500
. . . . . . g.37654
gaggctgaggcaggagaatcacttgaacccgggaggcagaggttgcagggagctgagatc c.*1560
. . . . . . g.37714
atgccactgcactccagcctaggggacagagcaagactctgtctcaaaacaaacaaacaa c.*1620
. . . . . . g.37774
aaaataataatacgataatgctatttgacgtgttttttggtttataatgattttaaatgc c.*1680
. . . . . . g.37834
agttaactttcagtacactgaatatttccccagaaaattggaaacttcatatacttggct c.*1740
. . . . . . g.37894
acgaacatactacagagtaatactatcaggaatacaggtgtataagaatacatttataga c.*1800
. . . . . . g.37954
tattgttgaaaactttgaactgtttgataaaaattgtgatttagtattttttcttttgtc c.*1860
. . . . . . g.38014
tttttttgaaacggagtctcactctgtcgcccaggctggagtccagtggcgcgatctcgg c.*1920
. . . . . . g.38074
ctcactgcaagctccgcctcccgggttcacgccattctcctgcctcagcctcccgagtag c.*1980
. . . . . . g.38134
ctgggactacaggcgcctgccaccaggcccggctaattttttttgtatttttagtagaga c.*2040
. . . . . . g.38194
cggggtttcaccgtgttacccaggatggtctccatctcctgacctcgtgatgagcccgct c.*2100
. . . . . . g.38254
tcggtctcccaaagtgttgggattacaggcgtgagccaccgcacccagcgatttagtatt c.*2160
. . . . . . g.38314
tttttctaatagactatgttcaacaaataagtaattctcgaatagttcagattaaaacat c.*2220
. . . . . . g.38374
acaggaaccaagtacatacccagcatagaagaactttactaaaggcttcttggaaagccc c.*2280
. . . . . . g.38434
ttttttgaaacgacagtatcgtaagtaacatatcatttataatagaaatcttgacccagt c.*2340
. . . . . . g.38494
gcagaaaaataaatatagtaaaatttatttatctttggccagttttccaacacccaggta c.*2400
. . . . . . g.38554
ttagccttgaagttgaagagataaggtttcttgtatattatttttcatttgtgttctaca c.*2460
. . . . . . g.38614
attaaaggttctgctttgatttgtcagataatttatagaaattttgttctcaaaacaaat c.*2520
. . . . . . g.38674
gtttgataaaacagattattaaatttggggttgagatgtctaaattgaatgctagaagta c.*2580
. . . . . . g.38734
aagtagaagtgaccactattaaagatgtatagggagaagagtacagcacaaagtgataaa c.*2640
. . . . . . g.38794
atagtgacacttttgtaggggtgtttattgtttggttaagtctgctaaattacggtatgc c.*2700
. . . . . . g.38854
attatctggtgactatttgtgcctgaaaattcgttttgtattaaaattctggagaaggaa c.*2760
. . . . . . g.38914
ttcaggactagaataaagagaaattttgtaaccttttttatcatgacagttttagaataa c.*2820
. . . . . . g.38974
tttttttagctgagattaaatgttcaaggctccaatattatttttaggaacttatttaag c.*2880
. . . . . . g.39034
gagtgctactttacagaaattactaacacaccaaaacattattaattaaataaaatataa c.*2940
. . . . . . g.39094
gtttacaataataaaacatgtttcttttaatttttctgattatattttatgagttcagaa c.*3000
. . . . . . g.39154
aggaaatggtaaaagaactatacattttcatgttttaacattttatgtacgtacttgatt c.*3060
. . . . . . g.39214
ctgtctgtgtcataattacacatttacttgaacacagctatcctttatcttgtgctttct c.*3120
. . . . . . g.39274
ttaatagaaaaatgaacagaaactgaatgcagttaaatttttatttttagtaggttgtga c.*3180
. . . . g.39314
agttacttttactggagaaataaaaatatgttaaacttga c.*3220
(downstream sequence)
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