Canonical Allele Identifier: CA2813728307
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187065_15187066insAGC , CM000681.2:g.15187065_15187066insAGC GRCh38
NC_000019.9:g.15297876_15297877insAGC , CM000681.1:g.15297876_15297877insAGC GRCh37
NC_000019.8:g.15158876_15158877insAGC NCBI36
NG_009819.1:g.18917_18918insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1840+40_1840+41insCTG MANE Select ENSP00000263388.1:n.1840+40_1840+41insCTG
ENST00000263388.6:c.1840+40_1840+41insCTG ENSP00000263388.1:n.1840+40_1840+41insCTG
ENST00000601011.1:c.1837+40_1837+41insCTG ENSP00000473138.1:n.1837+40_1837+41insCTG
NM_000435.2:c.1840+40_1840+41insCTG NP_000426.2:n.1840+40_1840+41insCTG
XM_005259924.3:c.1840+40_1840+41insCTG XP_005259981.1:n.1840+40_1840+41insCTG
XM_005259924.4:c.1840+40_1840+41insCTG XP_005259981.1:n.1840+40_1840+41insCTG
NM_000435.3:c.1840+40_1840+41insCTG MANE Select NP_000426.2:n.1840+40_1840+41insCTG