Canonical Allele Identifier: CA2499220253

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1074052
• ClinVar RCV Id: RCV001387228
• dbSNP Id: rs2132565021

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493187_49493188insA , CM000672.2:g.49493187_49493188insA	GRCh38
NC_000010.10:g.50701233_50701234insA , CM000672.1:g.50701233_50701234insA	GRCh37
NC_000010.9:g.50371239_50371240insA	NCBI36
NG_009442.1:g.50914_50915insT , LRG_465:g.50914_50915insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1750_1751insT MANE Select	ENSP00000348089.5:p.Glu584ValfsTer16
ENST00000681632.1:n.1828_1829insT
ENST00000681659.1:c.1591_1592insT	ENSP00000505631.1:p.Glu531ValfsTer16
ENST00000355832.9:c.1750_1751insT	ENSP00000348089.5:p.Glu584ValfsTer16
ENST00000475116.1:n.275+7350_275+7351insT
ENST00000623073.3:c.151_152insT	ENSP00000485650.1:p.Glu51ValfsTer16
ENST00000623115.3:c.-70+7350_-70+7351insT	ENSP00000485321.1:n.-70+7350_-70+7351insT
ENST00000623318.1:c.151_152insT	ENSP00000485423.1:p.Glu51ValfsTer16
NM_000124.3:c.1750_1751insT	NP_000115.1:p.Glu584ValfsTer16
NM_001346440.1:c.1750_1751insT	NP_001333369.1:p.Glu584ValfsTer16
NM_000124.4:c.1750_1751insT MANE Select	NP_000115.1:p.Glu584ValfsTer16
NM_001346440.2:c.1750_1751insT	NP_001333369.1:p.Glu584ValfsTer16