Canonical Allele Identifier: CA376714020

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.49470425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470429del , CM000672.2:g.49470429del	GRCh38
NC_000010.10:g.50678475del , CM000672.1:g.50678475del	GRCh37
NC_000010.9:g.50348481del	NCBI36
NG_009442.1:g.73677del , LRG_465:g.73677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3535del MANE Select	ENSP00000348089.5:p.Tyr1179IlefsTer22
ENST00000679552.1:n.606del
ENST00000679871.1:n.681del
ENST00000679974.1:n.584del
ENST00000681632.1:n.4938del
ENST00000681659.1:c.3376del	ENSP00000505631.1:p.Tyr1126IlefsTer22
ENST00000355832.9:c.3535del	ENSP00000348089.5:p.Tyr1179IlefsTer22
ENST00000623073.3:c.*1831del	ENSP00000485650.1:n.*1831del
ENST00000623115.3:c.1645del	ENSP00000485321.1:p.Tyr549IlefsTer22
ENST00000624341.3:c.1367del
NM_000124.3:c.3535del	NP_000115.1:p.Tyr1179IlefsTer22
XR_945953.1:n.243-1136del
NM_001346440.1:c.3535del	NP_001333369.1:p.Tyr1179IlefsTer22
NM_000124.4:c.3535del MANE Select	NP_000115.1:p.Tyr1179IlefsTer22
NM_001346440.2:c.3535del	NP_001333369.1:p.Tyr1179IlefsTer22