Canonical Allele Identifier: CA2609133813

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470351-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470354del , CM000672.2:g.49470354del	GRCh38
NC_000010.10:g.50678400del , CM000672.1:g.50678400del	GRCh37
NC_000010.9:g.50348406del	NCBI36
NG_009442.1:g.73750del , LRG_465:g.73750del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3608del MANE Select	ENSP00000348089.5:p.Lys1203SerfsTer24
ENST00000679552.1:n.679del
ENST00000679871.1:n.754del
ENST00000679974.1:n.657del
ENST00000681632.1:n.5011del
ENST00000681659.1:c.3449del	ENSP00000505631.1:p.Lys1150SerfsTer24
ENST00000355832.9:c.3608del	ENSP00000348089.5:p.Lys1203SerfsTer24
ENST00000623073.3:c.*1904del	ENSP00000485650.1:n.*1904del
ENST00000623115.3:c.1718del	ENSP00000485321.1:p.Lys573SerfsTer24
ENST00000624341.3:c.1440del
NM_000124.3:c.3608del	NP_000115.1:p.Lys1203SerfsTer24
XR_945953.1:n.243-1211del
NM_001346440.1:c.3608del	NP_001333369.1:p.Lys1203SerfsTer24
NM_000124.4:c.3608del MANE Select	NP_000115.1:p.Lys1203SerfsTer24
NM_001346440.2:c.3608del	NP_001333369.1:p.Lys1203SerfsTer24