Canonical Allele Identifier: CA2843222357

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461497dup , CM000672.2:g.49461497dup	GRCh38
NC_000010.10:g.50669543dup , CM000672.1:g.50669543dup	GRCh37
NC_000010.9:g.50339549dup	NCBI36
NG_009442.1:g.82605dup , LRG_465:g.82605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3838dup MANE Select	ENSP00000348089.5:p.Val1280GlyfsTer?
ENST00000679552.1:n.909dup
ENST00000679871.1:n.984dup
ENST00000679974.1:n.887dup
ENST00000681632.1:n.5241dup
ENST00000681659.1:c.3679dup	ENSP00000505631.1:p.Val1227GlyfsTer?
ENST00000355832.9:c.3838dup	ENSP00000348089.5:p.Val1280GlyfsTer?
ENST00000465653.1:n.160dup
ENST00000623073.3:c.*2134dup	ENSP00000485650.1:n.*2134dup
ENST00000623115.3:c.1948dup	ENSP00000485321.1:p.Val650GlyfsTer?
ENST00000624341.3:c.1670dup
NM_000124.3:c.3838dup	NP_000115.1:p.Val1280GlyfsTer?
XR_945953.1:n.243-10068dup
NM_001346440.1:c.3838dup	NP_001333369.1:p.Val1280GlyfsTer?
NM_000124.4:c.3838dup MANE Select	NP_000115.1:p.Val1280GlyfsTer?
NM_001346440.2:c.3838dup	NP_001333369.1:p.Val1280GlyfsTer?