Canonical Allele Identifier: CA1908772164

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492954_49492956delinsAAC , CM000672.2:g.49492954_49492956delinsAAC	GRCh38
NC_000010.10:g.50701000_50701002delinsAAC , CM000672.1:g.50701000_50701002delinsAAC	GRCh37
NC_000010.9:g.50371006_50371008delinsAAC	NCBI36
NG_009442.1:g.51146_51148delinsGTT , LRG_465:g.51146_51148delinsGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+161_1821+163delinsGTT MANE Select	ENSP00000348089.5:n.1821+161_1821+163deli...
ENST00000681632.1:n.1899+161_1899+163delinsGTT
ENST00000681659.1:c.1662+161_1662+163delinsGTT	ENSP00000505631.1:n.1662+161_1662+163deli...
ENST00000355832.9:c.1821+161_1821+163delinsGTT	ENSP00000348089.5:n.1821+161_1821+163deli...
ENST00000475116.1:n.275+7582_275+7584delinsGTT
ENST00000623073.3:c.222+161_222+163delinsGTT	ENSP00000485650.1:n.222+161_222+163delins...
ENST00000623115.3:c.-70+7582_-70+7584delinsGTT	ENSP00000485321.1:n.-70+7582_-70+7584deli...
ENST00000623318.1:c.222+161_222+163delinsGTT	ENSP00000485423.1:n.222+161_222+163delins...
NM_000124.3:c.1821+161_1821+163delinsGTT	NP_000115.1:n.1821+161_1821+163delinsGTT
NM_001346440.1:c.1821+161_1821+163delinsGTT	NP_001333369.1:n.1821+161_1821+163delinsG...
NM_000124.4:c.1821+161_1821+163delinsGTT MANE Select	NP_000115.1:n.1821+161_1821+163delinsGTT
NM_001346440.2:c.1821+161_1821+163delinsGTT	NP_001333369.1:n.1821+161_1821+163delinsG...