(used for variant description)
(last modified August 12, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001033046.3 in the C17orf62 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering C17orf62 transcript NM_001033046.3.
(upstream sequence)
. . . . . g.5050
ccaatcccggaagcgcgcgcggccccgcccccgaaagtcggctcggctcc c.-121
. . . . . . g.5110
gctccaatcccggaagtgcgcgcggccccgcccccgccggttcgcgtctctctgctgcgg c.-61
. . . | 02 . . . g.6577
cgcggggaccgctgtgctctcg | acccctcctcctgtagagagtggtgctgccctctcggg c.-1
. . . . . . g.6637
ATGTACCTGCAGGTGGAGACCCGCACCAGCTCCCGCCTCCATCTGAAGAGGGCTCCAGGC c.60
M Y L Q V E T R T S S R L H L K R A P G p.20
. . | 03 . . . . g.8245
ATCCGGTCCTGGTCCCTGCTGGTTG | GAATCTTGTCGATTGGCCTGGCTGCTGCCTACTAC c.120
I R S W S L L V G | I L S I G L A A A Y Y p.40
| 04. . . . . . g.9188
AGCGGAG | ATAGCCTGGGCTGGAAGCTCTTCTACGTCACAGGCTGCCTGTTTGTGGCTGTG c.180
S G D | S L G W K L F Y V T G C L F V A V p.60
. . | 05 . . . . g.9910
CAGAACTTGGAGGACTGGGAG | GAAGCCATCTTCGACAAGAGCACAGGGAAGGTTGTTTTG c.240
Q N L E D W E | E A I F D K S T G K V V L p.80
. . . . . | 06 g.11242
AAGACGTTCAGCCTCTACAAGAAGCTGCTGACTCTTTTCAGAGCTGGCCACGACCAGG | TG c.300
K T F S L Y K K L L T L F R A G H D Q V | p.100
. . . . . . g.11302
GTGGTCCTGCTCCATGATGTCCGTGATGTGAGCGTGGAGGAGGAGAAGGTCCGGTACTTC c.360
V V L L H D V R D V S V E E E K V R Y F p.120
. . . . . . g.11362
GGGAAAGGCTACATGGTGGTGCTCCGGCTTGCGACGGGCTTCTCCCACCCCCTCACGCAG c.420
G K G Y M V V L R L A T G F S H P L T Q p.140
. . | 07 . . . . g.11744
AGTGCAGTCATGGGCCACCGCAG | TGATGTGGAAGCCATCGCCAAGCTCATCACCAGCTTC c.480
S A V M G H R S | D V E A I A K L I T S F p.160
. . . . . . g.11804
CTGGAGCTGCACTGCCTTGAGAGCCCCACAGAGCTGTCTCAGAGCAGCGACAGTGAGGCC c.540
L E L H C L E S P T E L S Q S S D S E A p.180
. . g.11828
GGTGACCCTGCAAGCCAGAGCTGA c.564
G D P A S Q S X p.187
. . . . . . g.11888
cagccccactgtgcctgagcccgtgcaccgcccacaggacccatggcacattcccggtgt c.*60
. . . . . . g.11948
gcctgagcccgtgcaccgcccacaggacccgtggcacattcccggtgtgcctgagcccgt c.*120
. . . . . . g.12008
gcaccgcccacaggacccgtggcacattcccggtgtgcctgagcccgtgcaccgcccaca c.*180
. . . . . . g.12068
ggacccgtggcacattcccggtgtgcctgagcccgtgcaccgcccacaggacccgtggcc c.*240
. . . . . . g.12128
ttggcttcagttggtgcctccagccgagttggcctattgcctgctcatgctgctgcttgc c.*300
. . . . . . g.12188
acactgcatgaaacagcaggccagaccaggacatccagactttctccatcgtgaggcctg c.*360
. . . . . . g.12248
ggcctgcctttctgcagccggaggtctcgccagccctggactcctgctttgggccacagc c.*420
. . . . . . g.12308
aagacctcgggcgagtggagaggcggggccaggccgggcccttgtgggtgctgatgctgc c.*480
. . . . . . g.12368
atgttgtccccgacacagcgtcctctccctggtggacatccccagcggtcaggtgcttcc c.*540
. . . . . . g.12428
ccaagggcagtgaggggtgaacatccagggcctacctggctgtgcacgctgcagccacac c.*600
. . . . . . g.12488
tgtggaagctgcccctccccgaggacccgcctcccttgctgatgccaggatctcggcgca c.*660
. . . . . . g.12548
tagaccactctgccccagcggtcgtcacagaaaggtctctctgttcctcacactcagctt c.*720
. . . . . . g.12608
cagcataagctgtgaggccagaaaaaaggtcagctcttctagtatcgtgcagtgcttaaa c.*780
. . . . . . g.12668
aaccgggagctccagccgggcgcagtggttcatgccagtaatcccagcactttcggaggc c.*840
. . . . . . g.12728
cgaggtgggaggattgcttgaggccaggagttcaagaccagcctgggcaacacagcaaga c.*900
. . . . . . g.12788
tcctgtctttgtaaaaaaactaaccaaacaggaaaaactgggagattttctgcagaaatt c.*960
. . . . . . g.12848
gagttccagcctctctcgaacctgggaagacctggcaggagggggctgggctctcggcta c.*1020
. . . . . . g.12908
cagacttctccccaccccgtaggagctgaacgccaaccatcctgacccgccagtgctctt c.*1080
. . . . . . g.12968
ggtctcctgagtgtacccaggtcctcccaggtgcggtgtgcaccgagcgcgcctggcctg c.*1140
. . . . . . g.13028
atgccctggcctgtgagctggggactcctgggccctgtgagcccctaggcggcaggccca c.*1200
. . . . . . g.13088
ggaatggctgggtaggacagggaacacctttgccccacgtctggctgtgacctcggtgaa c.*1260
. . . . . . g.13148
agccgacaggagagagatgggaccctcctcctcagtagtggctgccagtccctcgttgca c.*1320
. . . . . . g.13208
ggacagggtcatcataaccataaataacccttcacgtgtcacctgcagcttccactcttt c.*1380
. . . g.13246
atttccaaagaatcagtgtcacacatgcagatcacaaa c.*1418
(downstream sequence)
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