Canonical Allele Identifier: CA2580081571

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2016462
• ClinVar RCV Id: RCV002851584

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461382dup , CM000672.2:g.49461382dup	GRCh38
NC_000010.10:g.50669428dup , CM000672.1:g.50669428dup	GRCh37
NC_000010.9:g.50339434dup	NCBI36
NG_009442.1:g.82724dup , LRG_465:g.82724dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3957dup MANE Select	ENSP00000348089.5:p.Ile1320AspfsTer11
ENST00000679552.1:n.1028dup
ENST00000679871.1:n.1103dup
ENST00000679974.1:n.1006dup
ENST00000681632.1:n.5360dup
ENST00000681659.1:c.3798dup	ENSP00000505631.1:p.Ile1267AspfsTer11
ENST00000355832.9:c.3957dup	ENSP00000348089.5:p.Ile1320AspfsTer11
ENST00000465653.1:n.279dup
ENST00000623073.3:c.*2253dup	ENSP00000485650.1:n.*2253dup
ENST00000623115.3:c.2067dup	ENSP00000485321.1:p.Ile690AspfsTer11
ENST00000624341.3:c.1789dup
NM_000124.3:c.3957dup	NP_000115.1:p.Ile1320AspfsTer11
XR_945953.1:n.243-10183dup
NM_001346440.1:c.3957dup	NP_001333369.1:p.Ile1320AspfsTer11
NM_000124.4:c.3957dup MANE Select	NP_000115.1:p.Ile1320AspfsTer11
NM_001346440.2:c.3957dup	NP_001333369.1:p.Ile1320AspfsTer11