Canonical Allele Identifier: CA2324747831
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187483_15187484delinsAC , CM000681.2:g.15187483_15187484delinsAC GRCh38
NC_000019.9:g.15298294_15298295delinsAC , CM000681.1:g.15298294_15298295delinsAC GRCh37
NC_000019.8:g.15159294_15159295delinsAC NCBI36
NG_009819.1:g.18498_18499delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-146_1607-145delinsGT MANE Select ENSP00000263388.1:n.1607-146_1607-145delinsGT
ENST00000263388.6:c.1607-146_1607-145delinsGT ENSP00000263388.1:n.1607-146_1607-145delinsGT
ENST00000601011.1:c.1604-146_1604-145delinsGT ENSP00000473138.1:n.1604-146_1604-145delinsGT
NM_000435.2:c.1607-146_1607-145delinsGT NP_000426.2:n.1607-146_1607-145delinsGT
XM_005259924.3:c.1607-146_1607-145delinsGT XP_005259981.1:n.1607-146_1607-145delinsGT
XM_005259924.4:c.1607-146_1607-145delinsGT XP_005259981.1:n.1607-146_1607-145delinsGT
NM_000435.3:c.1607-146_1607-145delinsGT MANE Select NP_000426.2:n.1607-146_1607-145delinsGT