Canonical Allele Identifier: CA2609134037

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470484-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470487dup , CM000672.2:g.49470487dup	GRCh38
NC_000010.10:g.50678533dup , CM000672.1:g.50678533dup	GRCh37
NC_000010.9:g.50348539dup	NCBI36
NG_009442.1:g.73617dup , LRG_465:g.73617dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3475dup MANE Select	ENSP00000348089.5:p.Arg1159LysfsTer14
ENST00000679552.1:n.546dup
ENST00000679871.1:n.621dup
ENST00000679974.1:n.524dup
ENST00000681632.1:n.4878dup
ENST00000681659.1:c.3316dup	ENSP00000505631.1:p.Arg1106LysfsTer14
ENST00000355832.9:c.3475dup	ENSP00000348089.5:p.Arg1159LysfsTer14
ENST00000623073.3:c.*1771dup	ENSP00000485650.1:n.*1771dup
ENST00000623115.3:c.1585dup	ENSP00000485321.1:p.Arg529LysfsTer14
ENST00000624341.3:c.1307dup
NM_000124.3:c.3475dup	NP_000115.1:p.Arg1159LysfsTer14
XR_945953.1:n.243-1078dup
NM_001346440.1:c.3475dup	NP_001333369.1:p.Arg1159LysfsTer14
NM_000124.4:c.3475dup MANE Select	NP_000115.1:p.Arg1159LysfsTer14
NM_001346440.2:c.3475dup	NP_001333369.1:p.Arg1159LysfsTer14