Canonical Allele Identifier: CA2580081543

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1724789
• ClinVar RCV Id: RCV002310057
• gnomAD v4: 10-49470454-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470459dup , CM000672.2:g.49470459dup	GRCh38
NC_000010.10:g.50678505dup , CM000672.1:g.50678505dup	GRCh37
NC_000010.9:g.50348511dup	NCBI36
NG_009442.1:g.73647dup , LRG_465:g.73647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3505dup MANE Select	ENSP00000348089.5:p.Trp1169LeufsTer4
ENST00000679552.1:n.576dup
ENST00000679871.1:n.651dup
ENST00000679974.1:n.554dup
ENST00000681632.1:n.4908dup
ENST00000681659.1:c.3346dup	ENSP00000505631.1:p.Trp1116LeufsTer4
ENST00000355832.9:c.3505dup	ENSP00000348089.5:p.Trp1169LeufsTer4
ENST00000623073.3:c.*1801dup	ENSP00000485650.1:n.*1801dup
ENST00000623115.3:c.1615dup	ENSP00000485321.1:p.Trp539LeufsTer4
ENST00000624341.3:c.1337dup
NM_000124.3:c.3505dup	NP_000115.1:p.Trp1169LeufsTer4
XR_945953.1:n.243-1106dup
NM_001346440.1:c.3505dup	NP_001333369.1:p.Trp1169LeufsTer4
NM_000124.4:c.3505dup MANE Select	NP_000115.1:p.Trp1169LeufsTer4
NM_001346440.2:c.3505dup	NP_001333369.1:p.Trp1169LeufsTer4