Canonical Allele Identifier: CA1908772240

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493019_49493023delinsGAATA , CM000672.2:g.49493019_49493023delinsGAATA	GRCh38
NC_000010.10:g.50701065_50701069delinsGAATA , CM000672.1:g.50701065_50701069delinsGAATA	GRCh37
NC_000010.9:g.50371071_50371075delinsGAATA	NCBI36
NG_009442.1:g.51079_51083delinsTATTC , LRG_465:g.51079_51083delinsTATTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+94_1821+98delinsTATTC MANE Select	ENSP00000348089.5:n.1821+94_1821+98delins...
ENST00000681632.1:n.1899+94_1899+98delinsTATTC
ENST00000681659.1:c.1662+94_1662+98delinsTATTC	ENSP00000505631.1:n.1662+94_1662+98delins...
ENST00000355832.9:c.1821+94_1821+98delinsTATTC	ENSP00000348089.5:n.1821+94_1821+98delins...
ENST00000475116.1:n.275+7515_275+7519delinsTATTC
ENST00000623073.3:c.222+94_222+98delinsTATTC	ENSP00000485650.1:n.222+94_222+98delinsTA...
ENST00000623115.3:c.-70+7515_-70+7519delinsTATTC	ENSP00000485321.1:n.-70+7515_-70+7519deli...
ENST00000623318.1:c.222+94_222+98delinsTATTC	ENSP00000485423.1:n.222+94_222+98delinsTA...
NM_000124.3:c.1821+94_1821+98delinsTATTC	NP_000115.1:n.1821+94_1821+98delinsTATTC
NM_001346440.1:c.1821+94_1821+98delinsTATTC	NP_001333369.1:n.1821+94_1821+98delinsTAT...
NM_000124.4:c.1821+94_1821+98delinsTATTC MANE Select	NP_000115.1:n.1821+94_1821+98delinsTATTC
NM_001346440.2:c.1821+94_1821+98delinsTATTC	NP_001333369.1:n.1821+94_1821+98delinsTAT...