Canonical Allele Identifier: CA2324744389
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180454_15180457delinsAGCT , CM000681.2:g.15180454_15180457delinsAGCT GRCh38
NC_000019.9:g.15291265_15291268delinsAGCT , CM000681.1:g.15291265_15291268delinsAGCT GRCh37
NC_000019.8:g.15152265_15152268delinsAGCT NCBI36
NG_009819.1:g.25525_25528delinsAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-201_3143-198delinsAGCT MANE Select ENSP00000263388.1:n.3143-201_3143-198delinsAGCT
ENST00000263388.6:c.3143-201_3143-198delinsAGCT ENSP00000263388.1:n.3143-201_3143-198delinsAGCT
ENST00000601011.1:c.2984-201_2984-198delinsAGCT ENSP00000473138.1:n.2984-201_2984-198delinsAGCT
NM_000435.2:c.3143-201_3143-198delinsAGCT NP_000426.2:n.3143-201_3143-198delinsAGCT
XM_005259924.3:c.2987-201_2987-198delinsAGCT XP_005259981.1:n.2987-201_2987-198delinsAGCT
XM_005259924.4:c.2987-201_2987-198delinsAGCT XP_005259981.1:n.2987-201_2987-198delinsAGCT
NM_000435.3:c.3143-201_3143-198delinsAGCT MANE Select NP_000426.2:n.3143-201_3143-198delinsAGCT