Canonical Allele Identifier: CA2583064683

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187459-AGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187460_15187462del , CM000681.2:g.15187460_15187462del	GRCh38
NC_000019.9:g.15298271_15298273del , CM000681.1:g.15298271_15298273del	GRCh37
NC_000019.8:g.15159271_15159273del	NCBI36
NG_009819.1:g.18520_18522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-124_1607-122del MANE Select	ENSP00000263388.1:n.1607-124_1607-122del
ENST00000263388.6:c.1607-124_1607-122del	ENSP00000263388.1:n.1607-124_1607-122del
ENST00000601011.1:c.1604-124_1604-122del	ENSP00000473138.1:n.1604-124_1604-122del
NM_000435.2:c.1607-124_1607-122del	NP_000426.2:n.1607-124_1607-122del
XM_005259924.3:c.1607-124_1607-122del	XP_005259981.1:n.1607-124_1607-122del
XM_005259924.4:c.1607-124_1607-122del	XP_005259981.1:n.1607-124_1607-122del
NM_000435.3:c.1607-124_1607-122del MANE Select	NP_000426.2:n.1607-124_1607-122del