Canonical Allele Identifier: CA274691
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 190148
ClinVar RCV Id: RCV000170366
dbSNP Id: rs786205167
MyVariant Identifiers: chr10:g.50691534dupC (hg19) chr10:g.50691533_50691534insC (hg19) chr10:g.49483488dupC (hg38) chr10:g.49483487_49483488insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49483488dup , CM000672.2:g.49483488dup GRCh38
NC_000010.10:g.50691534dup , CM000672.1:g.50691534dup GRCh37
NC_000010.9:g.50361540dup NCBI36
NG_009442.1:g.60614dup , LRG_465:g.60614dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1850dup MANE Select ENSP00000348089.5:p.Cys617TrpfsTer18
ENST00000681632.1:n.1928dup
ENST00000681659.1:c.1691dup ENSP00000505631.1:p.Cys564TrpfsTer18
ENST00000355832.9:c.1850dup ENSP00000348089.5:p.Cys617TrpfsTer18
ENST00000475116.1:n.304dup
ENST00000623073.3:c.*242dup ENSP00000485650.1:n.*242dup
ENST00000623115.3:c.-41dup ENSP00000485321.1:n.-41dup
ENST00000623318.1:c.251dup ENSP00000485423.1:p.Cys84TrpfsTer18
NM_000124.3:c.1850dup NP_000115.1:p.Cys617TrpfsTer18
NM_001346440.1:c.1850dup NP_001333369.1:p.Cys617TrpfsTer18
NM_000124.4:c.1850dup MANE Select NP_000115.1:p.Cys617TrpfsTer18
NM_001346440.2:c.1850dup NP_001333369.1:p.Cys617TrpfsTer18
Search 100 bp 5'
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