Canonical Allele Identifier: CA2324747796

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187420_15187424delinsCTCTA , CM000681.2:g.15187420_15187424delinsCTCTA	GRCh38
NC_000019.9:g.15298231_15298235delinsCTCTA , CM000681.1:g.15298231_15298235delinsCTCTA	GRCh37
NC_000019.8:g.15159231_15159235delinsCTCTA	NCBI36
NG_009819.1:g.18558_18562delinsTAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-86_1607-82delinsTAGAG MANE Select	ENSP00000263388.1:n.1607-86_1607-82delinsTAGAG
ENST00000263388.6:c.1607-86_1607-82delinsTAGAG	ENSP00000263388.1:n.1607-86_1607-82delinsTAGAG
ENST00000601011.1:c.1604-86_1604-82delinsTAGAG	ENSP00000473138.1:n.1604-86_1604-82delinsTAGAG
NM_000435.2:c.1607-86_1607-82delinsTAGAG	NP_000426.2:n.1607-86_1607-82delinsTAGAG
XM_005259924.3:c.1607-86_1607-82delinsTAGAG	XP_005259981.1:n.1607-86_1607-82delinsTAGAG
XM_005259924.4:c.1607-86_1607-82delinsTAGAG	XP_005259981.1:n.1607-86_1607-82delinsTAGAG
NM_000435.3:c.1607-86_1607-82delinsTAGAG MANE Select	NP_000426.2:n.1607-86_1607-82delinsTAGAG