Canonical Allele Identifier: CA912969887

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678889_50678892del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470844_49470847del , CM000672.2:g.49470844_49470847del	GRCh38
NC_000010.10:g.50678890_50678893del , CM000672.1:g.50678890_50678893del	GRCh37
NC_000010.9:g.50348896_50348899del	NCBI36
NG_009442.1:g.73257_73260del , LRG_465:g.73257_73260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3115_3118del MANE Select	ENSP00000348089.5:p.Arg1039PhefsTer24
ENST00000679552.1:n.186_189del
ENST00000679871.1:n.261_264del
ENST00000679974.1:n.164_167del
ENST00000681632.1:n.4518_4521del
ENST00000681659.1:c.2956_2959del	ENSP00000505631.1:p.Arg986PhefsTer24
ENST00000355832.9:c.3115_3118del	ENSP00000348089.5:p.Arg1039PhefsTer24
ENST00000623073.3:c.*1411_*1414del	ENSP00000485650.1:n.*1411_*1414del
ENST00000623115.3:c.1225_1228del	ENSP00000485321.1:p.Arg409PhefsTer24
ENST00000624341.3:c.947_950del
NM_000124.3:c.3115_3118del	NP_000115.1:p.Arg1039PhefsTer24
XR_945953.1:n.243-721_243-718del
NM_001346440.1:c.3115_3118del	NP_001333369.1:p.Arg1039PhefsTer24
NM_000124.4:c.3115_3118del MANE Select	NP_000115.1:p.Arg1039PhefsTer24
NM_001346440.2:c.3115_3118del	NP_001333369.1:p.Arg1039PhefsTer24