Canonical Allele Identifier: CA1908772165

Gene: ERCC6

Linked Data

• dbSNP Id: rs1851200906

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492958_49492959del , CM000672.2:g.49492958_49492959del	GRCh38
NC_000010.10:g.50701004_50701005del , CM000672.1:g.50701004_50701005del	GRCh37
NC_000010.9:g.50371010_50371011del	NCBI36
NG_009442.1:g.51146_51147del , LRG_465:g.51146_51147del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+161_1821+162del MANE Select	ENSP00000348089.5:n.1821+161_1821+162del
ENST00000681632.1:n.1899+161_1899+162del
ENST00000681659.1:c.1662+161_1662+162del	ENSP00000505631.1:n.1662+161_1662+162del
ENST00000355832.9:c.1821+161_1821+162del	ENSP00000348089.5:n.1821+161_1821+162del
ENST00000475116.1:n.275+7582_275+7583del
ENST00000623073.3:c.222+161_222+162del	ENSP00000485650.1:n.222+161_222+162del
ENST00000623115.3:c.-70+7582_-70+7583del	ENSP00000485321.1:n.-70+7582_-70+7583del
ENST00000623318.1:c.222+161_222+162del	ENSP00000485423.1:n.222+161_222+162del
NM_000124.3:c.1821+161_1821+162del	NP_000115.1:n.1821+161_1821+162del
NM_001346440.1:c.1821+161_1821+162del	NP_001333369.1:n.1821+161_1821+162del
NM_000124.4:c.1821+161_1821+162del MANE Select	NP_000115.1:n.1821+161_1821+162del
NM_001346440.2:c.1821+161_1821+162del	NP_001333369.1:n.1821+161_1821+162del