Canonical Allele Identifier: CA2813728328

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187468_15187469insCGGGGGGGGGGG , CM000681.2:g.15187468_15187469insCGGGGGGGGGGG	GRCh38
NC_000019.9:g.15298279_15298280insCGGGGGGGGGGG , CM000681.1:g.15298279_15298280insCGGGGGGGGGGG	GRCh37
NC_000019.8:g.15159279_15159280insCGGGGGGGGGGG	NCBI36
NG_009819.1:g.18513_18514insCCCCCCCCCCCG

Transcript Alleles

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