Canonical Allele Identifier: CA2580081546

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1724927
• ClinVar RCV Id: RCV002307986

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482690del , CM000672.2:g.49482690del	GRCh38
NC_000010.10:g.50690736del , CM000672.1:g.50690736del	GRCh37
NC_000010.9:g.50360742del	NCBI36
NG_009442.1:g.61412del , LRG_465:g.61412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2166del MANE Select	ENSP00000348089.5:p.Gln723ArgfsTer16
ENST00000681632.1:n.2244del
ENST00000681659.1:c.2007del	ENSP00000505631.1:p.Gln670ArgfsTer16
ENST00000355832.9:c.2166del	ENSP00000348089.5:p.Gln723ArgfsTer16
ENST00000623073.3:c.*558del	ENSP00000485650.1:n.*558del
ENST00000623115.3:c.276del	ENSP00000485321.1:p.Gln93ArgfsTer16
NM_000124.3:c.2166del	NP_000115.1:p.Gln723ArgfsTer16
NM_001346440.1:c.2166del	NP_001333369.1:p.Gln723ArgfsTer16
NM_000124.4:c.2166del MANE Select	NP_000115.1:p.Gln723ArgfsTer16
NM_001346440.2:c.2166del	NP_001333369.1:p.Gln723ArgfsTer16