Canonical Allele Identifier: CA2583064813

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187476-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187481_15187482del , CM000681.2:g.15187481_15187482del	GRCh38
NC_000019.9:g.15298292_15298293del , CM000681.1:g.15298292_15298293del	GRCh37
NC_000019.8:g.15159292_15159293del	NCBI36
NG_009819.1:g.18504_18505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-140_1607-139del MANE Select	ENSP00000263388.1:n.1607-140_1607-139del
ENST00000263388.6:c.1607-140_1607-139del	ENSP00000263388.1:n.1607-140_1607-139del
ENST00000601011.1:c.1604-140_1604-139del	ENSP00000473138.1:n.1604-140_1604-139del
NM_000435.2:c.1607-140_1607-139del	NP_000426.2:n.1607-140_1607-139del
XM_005259924.3:c.1607-140_1607-139del	XP_005259981.1:n.1607-140_1607-139del
XM_005259924.4:c.1607-140_1607-139del	XP_005259981.1:n.1607-140_1607-139del
NM_000435.3:c.1607-140_1607-139del MANE Select	NP_000426.2:n.1607-140_1607-139del