Canonical Allele Identifier: CA2324744390
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2046830010

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180455del , CM000681.2:g.15180455del GRCh38
NC_000019.9:g.15291266del , CM000681.1:g.15291266del GRCh37
NC_000019.8:g.15152266del NCBI36
NG_009819.1:g.25527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-199del MANE Select ENSP00000263388.1:n.3143-199del
ENST00000263388.6:c.3143-199del ENSP00000263388.1:n.3143-199del
ENST00000601011.1:c.2984-199del ENSP00000473138.1:n.2984-199del
NM_000435.2:c.3143-199del NP_000426.2:n.3143-199del
XM_005259924.3:c.2987-199del XP_005259981.1:n.2987-199del
XM_005259924.4:c.2987-199del XP_005259981.1:n.2987-199del
NM_000435.3:c.3143-199del MANE Select NP_000426.2:n.3143-199del