Canonical Allele Identifier: CA918671163

Gene: ERCC6

Linked Data

• dbSNP Id: rs1564725847

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461458del , CM000672.2:g.49461458del	GRCh38
NC_000010.10:g.50669504del , CM000672.1:g.50669504del	GRCh37
NC_000010.9:g.50339510del	NCBI36
NG_009442.1:g.82644del , LRG_465:g.82644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3877del MANE Select	ENSP00000348089.5:p.Ala1293ProfsTer2
ENST00000679552.1:n.948del
ENST00000679871.1:n.1023del
ENST00000679974.1:n.926del
ENST00000681632.1:n.5280del
ENST00000681659.1:c.3718del	ENSP00000505631.1:p.Ala1240ProfsTer2
ENST00000355832.9:c.3877del	ENSP00000348089.5:p.Ala1293ProfsTer2
ENST00000465653.1:n.199del
ENST00000623073.3:c.*2173del	ENSP00000485650.1:n.*2173del
ENST00000623115.3:c.1987del	ENSP00000485321.1:p.Ala663ProfsTer2
ENST00000624341.3:c.1709del
NM_000124.3:c.3877del	NP_000115.1:p.Ala1293ProfsTer2
XR_945953.1:n.243-10107del
NM_001346440.1:c.3877del	NP_001333369.1:p.Ala1293ProfsTer2
NM_000124.4:c.3877del MANE Select	NP_000115.1:p.Ala1293ProfsTer2
NM_001346440.2:c.3877del	NP_001333369.1:p.Ala1293ProfsTer2