Canonical Allele Identifier: CA1908772191

Gene: ERCC6

Linked Data

• dbSNP Id: rs1851201257
• gnomAD v4: 10-49492967-AAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492972_49492975del , CM000672.2:g.49492972_49492975del	GRCh38
NC_000010.10:g.50701018_50701021del , CM000672.1:g.50701018_50701021del	GRCh37
NC_000010.9:g.50371024_50371027del	NCBI36
NG_009442.1:g.51131_51134del , LRG_465:g.51131_51134del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+146_1821+149del MANE Select	ENSP00000348089.5:n.1821+146_1821+149del
ENST00000681632.1:n.1899+146_1899+149del
ENST00000681659.1:c.1662+146_1662+149del	ENSP00000505631.1:n.1662+146_1662+149del
ENST00000355832.9:c.1821+146_1821+149del	ENSP00000348089.5:n.1821+146_1821+149del
ENST00000475116.1:n.275+7567_275+7570del
ENST00000623073.3:c.222+146_222+149del	ENSP00000485650.1:n.222+146_222+149del
ENST00000623115.3:c.-70+7567_-70+7570del	ENSP00000485321.1:n.-70+7567_-70+7570del
ENST00000623318.1:c.222+146_222+149del	ENSP00000485423.1:n.222+146_222+149del
NM_000124.3:c.1821+146_1821+149del	NP_000115.1:n.1821+146_1821+149del
NM_001346440.1:c.1821+146_1821+149del	NP_001333369.1:n.1821+146_1821+149del
NM_000124.4:c.1821+146_1821+149del MANE Select	NP_000115.1:n.1821+146_1821+149del
NM_001346440.2:c.1821+146_1821+149del	NP_001333369.1:n.1821+146_1821+149del