Canonical Allele Identifier: CA274707
Gene: ERCC6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190167
dbSNP Id: rs786205171

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470424del , CM000672.2:g.49470424del GRCh38
NC_000010.10:g.50678470del , CM000672.1:g.50678470del GRCh37
NC_000010.9:g.50348476del NCBI36
NG_009442.1:g.73678del , LRG_465:g.73678del

Transcript Alleles

HGVS Amino-acid change
NM_000124.3:c.3536del VV NP_000115.1:p.Tyr1179LeufsTer22
XR_945953.1:n.243-1141del
NM_001346440.1:c.3536del VV NP_001333369.1:p.Tyr1179LeufsTer22
NM_000124.4:c.3536del VV MANE Preferred NP_000115.1:p.Tyr1179LeufsTer22
ENST00000355832.9:c.3536del ENSP00000348089.5:p.Tyr1179LeufsTer22
ENST00000623073.3:c.*1832del ENSP00000485650.1:p.=
ENST00000623115.3:c.1646del ENSP00000485321.1:p.Tyr549LeufsTer22
ENST00000624341.3:n.1368del