Canonical Allele Identifier: CA658822990

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470349del , CM000672.2:g.49470349del	GRCh38
NC_000010.10:g.50678395del , CM000672.1:g.50678395del	GRCh37
NC_000010.9:g.50348401del	NCBI36
NG_009442.1:g.73756del , LRG_465:g.73756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3614del MANE Select	ENSP00000348089.5:p.Lys1205SerfsTer22
ENST00000679552.1:n.685del
ENST00000679871.1:n.760del
ENST00000679974.1:n.663del
ENST00000681632.1:n.5017del
ENST00000681659.1:c.3455del	ENSP00000505631.1:p.Lys1152SerfsTer22
ENST00000355832.9:c.3614del	ENSP00000348089.5:p.Lys1205SerfsTer22
ENST00000623073.3:c.*1910del	ENSP00000485650.1:n.*1910del
ENST00000623115.3:c.1724del	ENSP00000485321.1:p.Lys575SerfsTer22
ENST00000624341.3:c.1446del
NM_000124.3:c.3614del	NP_000115.1:p.Lys1205SerfsTer22
XR_945953.1:n.243-1216del
NM_001346440.1:c.3614del	NP_001333369.1:p.Lys1205SerfsTer22
NM_000124.4:c.3614del MANE Select	NP_000115.1:p.Lys1205SerfsTer22
NM_001346440.2:c.3614del	NP_001333369.1:p.Lys1205SerfsTer22