Canonical Allele Identifier: CA2324747826
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187476_15187477delinsAC , CM000681.2:g.15187476_15187477delinsAC GRCh38
NC_000019.9:g.15298287_15298288delinsAC , CM000681.1:g.15298287_15298288delinsAC GRCh37
NC_000019.8:g.15159287_15159288delinsAC NCBI36
NG_009819.1:g.18505_18506delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-139_1607-138delinsGT MANE Select ENSP00000263388.1:n.1607-139_1607-138delinsGT
ENST00000263388.6:c.1607-139_1607-138delinsGT ENSP00000263388.1:n.1607-139_1607-138delinsGT
ENST00000601011.1:c.1604-139_1604-138delinsGT ENSP00000473138.1:n.1604-139_1604-138delinsGT
NM_000435.2:c.1607-139_1607-138delinsGT NP_000426.2:n.1607-139_1607-138delinsGT
XM_005259924.3:c.1607-139_1607-138delinsGT XP_005259981.1:n.1607-139_1607-138delinsGT
XM_005259924.4:c.1607-139_1607-138delinsGT XP_005259981.1:n.1607-139_1607-138delinsGT
NM_000435.3:c.1607-139_1607-138delinsGT MANE Select NP_000426.2:n.1607-139_1607-138delinsGT