Canonical Allele Identifier: CA2697558384

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2748457
• ClinVar RCV Id: RCV003565998

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471025dup , CM000672.2:g.49471025dup	GRCh38
NC_000010.10:g.50679071dup , CM000672.1:g.50679071dup	GRCh37
NC_000010.9:g.50349077dup	NCBI36
NG_009442.1:g.73077dup , LRG_465:g.73077dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3020dup MANE Select	ENSP00000348089.5:p.Thr1008AspfsTer2
ENST00000679552.1:n.142-136dup
ENST00000679871.1:n.166dup
ENST00000679974.1:n.120-136dup
ENST00000681632.1:n.4423dup
ENST00000681659.1:c.2861dup	ENSP00000505631.1:p.Thr955AspfsTer2
ENST00000355832.9:c.3020dup	ENSP00000348089.5:p.Thr1008AspfsTer2
ENST00000623073.3:c.*1316dup	ENSP00000485650.1:n.*1316dup
ENST00000623115.3:c.1130dup	ENSP00000485321.1:p.Thr378AspfsTer2
ENST00000624341.3:c.852dup
NM_000124.3:c.3020dup	NP_000115.1:p.Thr1008AspfsTer2
XR_945953.1:n.243-540dup
NM_001346440.1:c.3020dup	NP_001333369.1:p.Thr1008AspfsTer2
NM_000124.4:c.3020dup MANE Select	NP_000115.1:p.Thr1008AspfsTer2
NM_001346440.2:c.3020dup	NP_001333369.1:p.Thr1008AspfsTer2