Canonical Allele Identifier: CA9263520

Gene: NOTCH3

Linked Data

• dbSNP Id: rs766015317
• ExAC: 19:15297814 CAT / C
• gnomAD v2: 19-15297814-CAT-C
• MyVariant Identifiers: chr19:g.15297815_15297816del (hg19) ; chr19:g.15187004_15187005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187004_15187005del , CM000681.2:g.15187004_15187005del	GRCh38
NC_000019.9:g.15297815_15297816del , CM000681.1:g.15297815_15297816del	GRCh37
NC_000019.8:g.15158815_15158816del	NCBI36
NG_009819.1:g.18977_18978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1841-17_1841-16del MANE Select	ENSP00000263388.1:n.1841-17_1841-16del
ENST00000263388.6:c.1841-17_1841-16del	ENSP00000263388.1:n.1841-17_1841-16del
ENST00000601011.1:c.1838-17_1838-16del	ENSP00000473138.1:n.1838-17_1838-16del
NM_000435.2:c.1841-17_1841-16del	NP_000426.2:n.1841-17_1841-16del
XM_005259924.3:c.1841-17_1841-16del	XP_005259981.1:n.1841-17_1841-16del
XM_005259924.4:c.1841-17_1841-16del	XP_005259981.1:n.1841-17_1841-16del
NM_000435.3:c.1841-17_1841-16del MANE Select	NP_000426.2:n.1841-17_1841-16del