Canonical Allele Identifier: CA2324747593

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187058_15187060delinsCTG , CM000681.2:g.15187058_15187060delinsCTG	GRCh38
NC_000019.9:g.15297869_15297871delinsCTG , CM000681.1:g.15297869_15297871delinsCTG	GRCh37
NC_000019.8:g.15158869_15158871delinsCTG	NCBI36
NG_009819.1:g.18922_18924delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1840+45_1840+47delinsCAG MANE Select	ENSP00000263388.1:n.1840+45_1840+47delinsCAG
ENST00000263388.6:c.1840+45_1840+47delinsCAG	ENSP00000263388.1:n.1840+45_1840+47delinsCAG
ENST00000601011.1:c.1837+45_1837+47delinsCAG	ENSP00000473138.1:n.1837+45_1837+47delinsCAG
NM_000435.2:c.1840+45_1840+47delinsCAG	NP_000426.2:n.1840+45_1840+47delinsCAG
XM_005259924.3:c.1840+45_1840+47delinsCAG	XP_005259981.1:n.1840+45_1840+47delinsCAG
XM_005259924.4:c.1840+45_1840+47delinsCAG	XP_005259981.1:n.1840+45_1840+47delinsCAG
NM_000435.3:c.1840+45_1840+47delinsCAG MANE Select	NP_000426.2:n.1840+45_1840+47delinsCAG