Canonical Allele Identifier: CA2583062915
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180322_15180327del , CM000681.2:g.15180322_15180327del GRCh38
NC_000019.9:g.15291133_15291138del , CM000681.1:g.15291133_15291138del GRCh37
NC_000019.8:g.15152133_15152138del NCBI36
NG_009819.1:g.25655_25660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-71_3143-66del MANE Select ENSP00000263388.1:n.3143-71_3143-66del
ENST00000263388.6:c.3143-71_3143-66del ENSP00000263388.1:n.3143-71_3143-66del
ENST00000601011.1:c.2984-71_2984-66del ENSP00000473138.1:n.2984-71_2984-66del
NM_000435.2:c.3143-71_3143-66del NP_000426.2:n.3143-71_3143-66del
XM_005259924.3:c.2987-71_2987-66del XP_005259981.1:n.2987-71_2987-66del
XM_005259924.4:c.2987-71_2987-66del XP_005259981.1:n.2987-71_2987-66del
NM_000435.3:c.3143-71_3143-66del MANE Select NP_000426.2:n.3143-71_3143-66del