Canonical Allele Identifier: CA2580081573

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2018186
• ClinVar RCV Id: RCV002861871

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472384del , CM000672.2:g.49472384del	GRCh38
NC_000010.10:g.50680430del , CM000672.1:g.50680430del	GRCh37
NC_000010.9:g.50350436del	NCBI36
NG_009442.1:g.71718del , LRG_465:g.71718del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2916del MANE Select	ENSP00000348089.5:p.Tyr973ThrfsTer10
ENST00000681632.1:n.4319del
ENST00000681659.1:c.2757del	ENSP00000505631.1:p.Tyr920ThrfsTer10
ENST00000355832.9:c.2916del	ENSP00000348089.5:p.Tyr973ThrfsTer10
ENST00000623073.3:c.*1212del	ENSP00000485650.1:n.*1212del
ENST00000623115.3:c.1026del	ENSP00000485321.1:p.Tyr343ThrfsTer10
ENST00000624341.3:c.748del
NM_000124.3:c.2916del	NP_000115.1:p.Tyr973ThrfsTer10
XR_945953.1:n.690-319del
NM_001346440.1:c.2916del	NP_001333369.1:p.Tyr973ThrfsTer10
NM_000124.4:c.2916del MANE Select	NP_000115.1:p.Tyr973ThrfsTer10
NM_001346440.2:c.2916del	NP_001333369.1:p.Tyr973ThrfsTer10