Canonical Allele Identifier: CA2580081544

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2440072
• ClinVar RCV Id: RCV003144972

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470460del , CM000672.2:g.49470460del	GRCh38
NC_000010.10:g.50678506del , CM000672.1:g.50678506del	GRCh37
NC_000010.9:g.50348512del	NCBI36
NG_009442.1:g.73642del , LRG_465:g.73642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3500del MANE Select	ENSP00000348089.5:p.Ala1167ValfsTer?
ENST00000679552.1:n.571del
ENST00000679871.1:n.646del
ENST00000679974.1:n.549del
ENST00000681632.1:n.4903del
ENST00000681659.1:c.3341del	ENSP00000505631.1:p.Ala1114ValfsTer?
ENST00000355832.9:c.3500del	ENSP00000348089.5:p.Ala1167ValfsTer?
ENST00000623073.3:c.*1796del	ENSP00000485650.1:n.*1796del
ENST00000623115.3:c.1610del	ENSP00000485321.1:p.Ala537ValfsTer?
ENST00000624341.3:c.1332del
NM_000124.3:c.3500del	NP_000115.1:p.Ala1167ValfsTer?
XR_945953.1:n.243-1105del
NM_001346440.1:c.3500del	NP_001333369.1:p.Ala1167ValfsTer?
NM_000124.4:c.3500del MANE Select	NP_000115.1:p.Ala1167ValfsTer?
NM_001346440.2:c.3500del	NP_001333369.1:p.Ala1167ValfsTer?