Canonical Allele Identifier: CA912969880

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678413dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470368dup , CM000672.2:g.49470368dup	GRCh38
NC_000010.10:g.50678414dup , CM000672.1:g.50678414dup	GRCh37
NC_000010.9:g.50348420dup	NCBI36
NG_009442.1:g.73736dup , LRG_465:g.73736dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3594dup MANE Select	ENSP00000348089.5:p.His1199ThrfsTer9
ENST00000679552.1:n.665dup
ENST00000679871.1:n.740dup
ENST00000679974.1:n.643dup
ENST00000681632.1:n.4997dup
ENST00000681659.1:c.3435dup	ENSP00000505631.1:p.His1146ThrfsTer9
ENST00000355832.9:c.3594dup	ENSP00000348089.5:p.His1199ThrfsTer9
ENST00000623073.3:c.*1890dup	ENSP00000485650.1:n.*1890dup
ENST00000623115.3:c.1704dup	ENSP00000485321.1:p.His569ThrfsTer9
ENST00000624341.3:c.1426dup
NM_000124.3:c.3594dup	NP_000115.1:p.His1199ThrfsTer9
XR_945953.1:n.243-1197dup
NM_001346440.1:c.3594dup	NP_001333369.1:p.His1199ThrfsTer9
NM_000124.4:c.3594dup MANE Select	NP_000115.1:p.His1199ThrfsTer9
NM_001346440.2:c.3594dup	NP_001333369.1:p.His1199ThrfsTer9