Canonical Allele Identifier: CA783619181

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1252517042
• MyVariant Identifiers: chr19:g.15297829_15297831del (hg19) ; chr19:g.15187018_15187020del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187022_15187024del , CM000681.2:g.15187022_15187024del	GRCh38
NC_000019.9:g.15297833_15297835del , CM000681.1:g.15297833_15297835del	GRCh37
NC_000019.8:g.15158833_15158835del	NCBI36
NG_009819.1:g.18962_18964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1841-32_1841-30del MANE Select	ENSP00000263388.1:n.1841-32_1841-30del
ENST00000263388.6:c.1841-32_1841-30del	ENSP00000263388.1:n.1841-32_1841-30del
ENST00000601011.1:c.1838-32_1838-30del	ENSP00000473138.1:n.1838-32_1838-30del
NM_000435.2:c.1841-32_1841-30del	NP_000426.2:n.1841-32_1841-30del
XM_005259924.3:c.1841-32_1841-30del	XP_005259981.1:n.1841-32_1841-30del
XM_005259924.4:c.1841-32_1841-30del	XP_005259981.1:n.1841-32_1841-30del
NM_000435.3:c.1841-32_1841-30del MANE Select	NP_000426.2:n.1841-32_1841-30del