Canonical Allele Identifier: CA9263822

Gene: NOTCH3

Linked Data

• dbSNP Id: rs377045673
• ExAC: 19:15302737 A / AC
• gnomAD v2: 19-15302737-A-AC
• gnomAD v3: 19-15191926-A-AC
• gnomAD v4: 19-15191926-A-AC
• MyVariant Identifiers: chr19:g.15302741_15302742insC (hg19) ; chr19:g.15302737_15302738insC (hg19) ; chr19:g.15191930_15191931insC (hg38) ; chr19:g.15191926_15191927insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191930dup , CM000681.2:g.15191930dup	GRCh38
NC_000019.9:g.15302741dup , CM000681.1:g.15302741dup	GRCh37
NC_000019.8:g.15163741dup	NCBI36
NG_009819.1:g.14055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.679+33dup MANE Select	ENSP00000263388.1:n.679+33dup
ENST00000263388.6:c.679+33dup	ENSP00000263388.1:n.679+33dup
ENST00000601011.1:c.676+33dup	ENSP00000473138.1:n.676+33dup
NM_000435.2:c.679+33dup	NP_000426.2:n.679+33dup
XM_005259924.3:c.679+33dup	XP_005259981.1:n.679+33dup
XM_005259924.4:c.679+33dup	XP_005259981.1:n.679+33dup
NM_000435.3:c.679+33dup MANE Select	NP_000426.2:n.679+33dup