Canonical Allele Identifier: CA9263528

Gene: NOTCH3

Linked Data

• dbSNP Id: rs759306698
• ExAC: 19:15297869 CTG / C
• gnomAD v2: 19-15297869-CTG-C
• gnomAD v3: 19-15187058-CTG-C
• gnomAD v4: 19-15187058-CTG-C
• MyVariant Identifiers: chr19:g.15297870_15297871del (hg19) ; chr19:g.15187059_15187060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187061_15187062del , CM000681.2:g.15187061_15187062del	GRCh38
NC_000019.9:g.15297872_15297873del , CM000681.1:g.15297872_15297873del	GRCh37
NC_000019.8:g.15158872_15158873del	NCBI36
NG_009819.1:g.18922_18923del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.1840+45_1840+46del MANE Select	ENSP00000263388.1:n.1840+45_1840+46del
ENST00000263388.6:c.1840+45_1840+46del	ENSP00000263388.1:n.1840+45_1840+46del
ENST00000601011.1:c.1837+45_1837+46del	ENSP00000473138.1:n.1837+45_1837+46del
NM_000435.2:c.1840+45_1840+46del	NP_000426.2:n.1840+45_1840+46del
XM_005259924.3:c.1840+45_1840+46del	XP_005259981.1:n.1840+45_1840+46del
XM_005259924.4:c.1840+45_1840+46del	XP_005259981.1:n.1840+45_1840+46del
NM_000435.3:c.1840+45_1840+46del MANE Select	NP_000426.2:n.1840+45_1840+46del