Canonical Allele Identifier: CA2324749823
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2046928356

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191735del , CM000681.2:g.15191735del GRCh38
NC_000019.9:g.15302546del , CM000681.1:g.15302546del GRCh37
NC_000019.8:g.15163546del NCBI36
NG_009819.1:g.14247del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.802+10del MANE Select ENSP00000263388.1:n.802+10del
ENST00000263388.6:c.802+10del ENSP00000263388.1:n.802+10del
ENST00000601011.1:c.799+10del ENSP00000473138.1:n.799+10del
NM_000435.2:c.802+10del NP_000426.2:n.802+10del
XM_005259924.3:c.802+10del XP_005259981.1:n.802+10del
XM_005259924.4:c.802+10del XP_005259981.1:n.802+10del
NM_000435.3:c.802+10del MANE Select NP_000426.2:n.802+10del