Canonical Allele Identifier: CA2583064865

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187481-C-CCCCCCCCCCCCTCCCTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187482_15187483insCCCCCCCCCCTCCCTCCAC , CM000681.2:g.15187482_15187483insCCCCCCCCCCTCCCTCCAC	GRCh38
NC_000019.9:g.15298293_15298294insCCCCCCCCCCTCCCTCCAC , CM000681.1:g.15298293_15298294insCCCCCCCCCCTCCCTCCAC	GRCh37
NC_000019.8:g.15159293_15159294insCCCCCCCCCCTCCCTCCAC	NCBI36
NG_009819.1:g.18500_18501insTGGAGGGAGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG MANE Select	ENSP00000263388.1:n.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG
ENST00000263388.6:c.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG	ENSP00000263388.1:n.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG
ENST00000601011.1:c.1604-144_1604-143insTGGAGGGAGGGGGGGGGGG	ENSP00000473138.1:n.1604-144_1604-143insTGGAGGGAGGGGGGGGGGG
NM_000435.2:c.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG	NP_000426.2:n.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG
XM_005259924.3:c.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG	XP_005259981.1:n.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG
XM_005259924.4:c.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG	XP_005259981.1:n.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG
NM_000435.3:c.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG MANE Select	NP_000426.2:n.1607-144_1607-143insTGGAGGGAGGGGGGGGGGG