Canonical Allele Identifier: CA2583064849

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187479-C-CCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187482_15187483insCCCCCCCCCCTCCC , CM000681.2:g.15187482_15187483insCCCCCCCCCCTCCC	GRCh38
NC_000019.9:g.15298293_15298294insCCCCCCCCCCTCCC , CM000681.1:g.15298293_15298294insCCCCCCCCCCTCCC	GRCh37
NC_000019.8:g.15159293_15159294insCCCCCCCCCCTCCC	NCBI36
NG_009819.1:g.18502_18503insAGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-142_1607-141insAGGGGGGGGGGGGG MANE Select	ENSP00000263388.1:n.1607-142_1607-141insAGGGGGGGGGGGGG
ENST00000263388.6:c.1607-142_1607-141insAGGGGGGGGGGGGG	ENSP00000263388.1:n.1607-142_1607-141insAGGGGGGGGGGGGG
ENST00000601011.1:c.1604-142_1604-141insAGGGGGGGGGGGGG	ENSP00000473138.1:n.1604-142_1604-141insAGGGGGGGGGGGGG
NM_000435.2:c.1607-142_1607-141insAGGGGGGGGGGGGG	NP_000426.2:n.1607-142_1607-141insAGGGGGGGGGGGGG
XM_005259924.3:c.1607-142_1607-141insAGGGGGGGGGGGGG	XP_005259981.1:n.1607-142_1607-141insAGGGGGGGGGGGGG
XM_005259924.4:c.1607-142_1607-141insAGGGGGGGGGGGGG	XP_005259981.1:n.1607-142_1607-141insAGGGGGGGGGGGGG
NM_000435.3:c.1607-142_1607-141insAGGGGGGGGGGGGG MANE Select	NP_000426.2:n.1607-142_1607-141insAGGGGGGGGGGGGG