Canonical Allele Identifier: CA2580081542

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1705392
• ClinVar RCV Id: RCV002283706

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49530722dup , CM000672.2:g.49530722dup	GRCh38
NC_000010.10:g.50738768dup , CM000672.1:g.50738768dup	GRCh37
NC_000010.9:g.50408774dup	NCBI36
NG_009442.1:g.13381dup , LRG_465:g.13381dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.542dup MANE Select	ENSP00000348089.5:p.Glu182GlyfsTer26
ENST00000447839.7:c.542dup MANE Plus Clinical	ENSP00000387966.2:p.Glu182GlyfsTer26
ENST00000679596.1:c.*172+1822dup	ENSP00000504862.1:n.*172+1822dup
ENST00000679811.1:n.625dup
ENST00000680107.1:c.542dup	ENSP00000505909.1:p.Glu182GlyfsTer26
ENST00000680233.1:n.635dup
ENST00000681632.1:n.620dup
ENST00000681659.1:c.542dup	ENSP00000505631.1:p.Glu182GlyfsTer26
ENST00000355832.9:c.542dup	ENSP00000348089.5:p.Glu182GlyfsTer26
ENST00000447839.6:c.542dup	ENSP00000387966.2:p.Glu182GlyfsTer26
ENST00000479652.1:n.17dup
ENST00000515869.1:c.542dup	ENSP00000423550.1:p.Glu182GlyfsTer26
NM_000124.3:c.542dup	NP_000115.1:p.Glu182GlyfsTer26
NM_001277058.1:c.542dup	NP_001263987.1:p.Glu182GlyfsTer26
NM_001277059.1:c.542dup	NP_001263988.1:p.Glu182GlyfsTer26
NM_001346440.1:c.542dup	NP_001333369.1:p.Glu182GlyfsTer26
NM_000124.4:c.542dup MANE Select	NP_000115.1:p.Glu182GlyfsTer26
NM_001277058.2:c.542dup MANE Plus Clinical	NP_001263987.1:p.Glu182GlyfsTer26
NM_001277059.2:c.542dup	NP_001263988.1:p.Glu182GlyfsTer26
NM_001346440.2:c.542dup	NP_001333369.1:p.Glu182GlyfsTer26