Canonical Allele Identifier: CA593780447

Gene: ERCC6

Linked Data

• dbSNP Id: rs1369058532
• gnomAD v2: 10-50678459-A-AAAAG
• MyVariant Identifiers: chr10:g.50678459_50678460insAAAG (hg19) ; chr10:g.49470413_49470414insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470413_49470414insAAAG , CM000672.2:g.49470413_49470414insAAAG	GRCh38
NC_000010.10:g.50678459_50678460insAAAG , CM000672.1:g.50678459_50678460insAAAG	GRCh37
NC_000010.9:g.50348465_50348466insAAAG	NCBI36
NG_009442.1:g.73688_73689insCTTT , LRG_465:g.73688_73689insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3546_3547insCTTT MANE Select	ENSP00000348089.5:p.Ser1183LeufsTer8
ENST00000679552.1:n.617_618insCTTT
ENST00000679871.1:n.692_693insCTTT
ENST00000679974.1:n.595_596insCTTT
ENST00000681632.1:n.4949_4950insCTTT
ENST00000681659.1:c.3387_3388insCTTT	ENSP00000505631.1:p.Ser1130LeufsTer8
ENST00000355832.9:c.3546_3547insCTTT	ENSP00000348089.5:p.Ser1183LeufsTer8
ENST00000623073.3:c.*1842_*1843insCTTT	ENSP00000485650.1:n.*1842_*1843insCTTT
ENST00000623115.3:c.1656_1657insCTTT	ENSP00000485321.1:p.Ser553LeufsTer8
ENST00000624341.3:c.1378_1379insCTTT
NM_000124.3:c.3546_3547insCTTT	NP_000115.1:p.Ser1183LeufsTer8
XR_945953.1:n.243-1152_243-1151insAAAG
NM_001346440.1:c.3546_3547insCTTT	NP_001333369.1:p.Ser1183LeufsTer8
NM_000124.4:c.3546_3547insCTTT MANE Select	NP_000115.1:p.Ser1183LeufsTer8
NM_001346440.2:c.3546_3547insCTTT	NP_001333369.1:p.Ser1183LeufsTer8