Canonical Allele Identifier: CA593780550

Gene: ERCC6

Linked Data

• dbSNP Id: rs1201866387
• gnomAD v2: 10-50669441-AG-A
• gnomAD v4: 10-49461395-AG-A
• MyVariant Identifiers: chr10:g.50669442del (hg19) ; chr10:g.49461396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461397del , CM000672.2:g.49461397del	GRCh38
NC_000010.10:g.50669443del , CM000672.1:g.50669443del	GRCh37
NC_000010.9:g.50339449del	NCBI36
NG_009442.1:g.82706del , LRG_465:g.82706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3939del MANE Select	ENSP00000348089.5:p.Trp1314GlyfsTer?
ENST00000679552.1:n.1010del
ENST00000679871.1:n.1085del
ENST00000679974.1:n.988del
ENST00000681632.1:n.5342del
ENST00000681659.1:c.3780del	ENSP00000505631.1:p.Trp1261GlyfsTer?
ENST00000355832.9:c.3939del	ENSP00000348089.5:p.Trp1314GlyfsTer?
ENST00000465653.1:n.261del
ENST00000623073.3:c.*2235del	ENSP00000485650.1:n.*2235del
ENST00000623115.3:c.2049del	ENSP00000485321.1:p.Trp684GlyfsTer?
ENST00000624341.3:c.1771del
NM_000124.3:c.3939del	NP_000115.1:p.Trp1314GlyfsTer?
XR_945953.1:n.243-10168del
NM_001346440.1:c.3939del	NP_001333369.1:p.Trp1314GlyfsTer?
NM_000124.4:c.3939del MANE Select	NP_000115.1:p.Trp1314GlyfsTer?
NM_001346440.2:c.3939del	NP_001333369.1:p.Trp1314GlyfsTer?