Canonical Allele Identifier: CA666041301

Gene: ERCC6

Linked Data

• dbSNP Id: rs200862492
• gnomAD v3: 10-49493005-GA-G
• gnomAD v4: 10-49493005-GA-G
• MyVariant Identifiers: chr10:g.50701052del (hg19) ; chr10:g.49493006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493013del , CM000672.2:g.49493013del	GRCh38
NC_000010.10:g.50701059del , CM000672.1:g.50701059del	GRCh37
NC_000010.9:g.50371065del	NCBI36
NG_009442.1:g.51096del , LRG_465:g.51096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+111del MANE Select	ENSP00000348089.5:n.1821+111del
ENST00000681632.1:n.1899+111del
ENST00000681659.1:c.1662+111del	ENSP00000505631.1:n.1662+111del
ENST00000355832.9:c.1821+111del	ENSP00000348089.5:n.1821+111del
ENST00000475116.1:n.275+7532del
ENST00000623073.3:c.222+111del	ENSP00000485650.1:n.222+111del
ENST00000623115.3:c.-70+7532del	ENSP00000485321.1:n.-70+7532del
ENST00000623318.1:c.222+111del	ENSP00000485423.1:n.222+111del
NM_000124.3:c.1821+111del	NP_000115.1:n.1821+111del
NM_001346440.1:c.1821+111del	NP_001333369.1:n.1821+111del
NM_000124.4:c.1821+111del MANE Select	NP_000115.1:n.1821+111del
NM_001346440.2:c.1821+111del	NP_001333369.1:n.1821+111del