Canonical Allele Identifier: CA645605638
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192193_15192194del , CM000681.2:g.15192193_15192194del GRCh38
NC_000019.9:g.15303004_15303005del , CM000681.1:g.15303004_15303005del GRCh37
NC_000019.8:g.15164004_15164005del NCBI36
NG_009819.1:g.13788_13789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.445_446del MANE Select ENSP00000263388.1:p.Gly149LeufsTer12
ENST00000263388.6:c.445_446del ENSP00000263388.1:p.Gly149LeufsTer12
ENST00000601011.1:c.442_443del ENSP00000473138.1:p.Gly148LeufsTer12
NM_000435.2:c.445_446del NP_000426.2:p.Gly149LeufsTer12
XM_005259924.3:c.445_446del XP_005259981.1:p.Gly149LeufsTer12
XM_005259924.4:c.445_446del XP_005259981.1:p.Gly149LeufsTer12
NM_000435.3:c.445_446del MANE Select NP_000426.2:p.Gly149LeufsTer12