Canonical Allele Identifier: CA2581974322

Gene: NOTCH3

Linked Data

• gnomAD v3: 19-15187468-C-CCGGGGGGGGGGGGGGGGGGGGG
• gnomAD v4: 19-15187468-C-CCGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187468_15187469insCGGGGGGGGGGGGGGGGGGGGG , CM000681.2:g.15187468_15187469insCGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000019.9:g.15298279_15298280insCGGGGGGGGGGGGGGGGGGGGG , CM000681.1:g.15298279_15298280insCGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000019.8:g.15159279_15159280insCGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009819.1:g.18513_18514insCCCCCCCCCCCCCCCCCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG MANE Select	ENSP00000263388.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCC...
ENST00000263388.6:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG	ENSP00000263388.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCC...
ENST00000601011.1:c.1604-131_1604-130insCCCCCCCCCCCCCCCCCCCCCG	ENSP00000473138.1:n.1604-131_1604-130insCCCCCCCCCCCCCCCCCCCCC...
NM_000435.2:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG	NP_000426.2:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG
XM_005259924.3:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG	XP_005259981.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG
XM_005259924.4:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG	XP_005259981.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG
NM_000435.3:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG MANE Select	NP_000426.2:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCG