Canonical Allele Identifier: CA2583064832

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187477-CCCCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187483_15187488del , CM000681.2:g.15187483_15187488del	GRCh38
NC_000019.9:g.15298294_15298299del , CM000681.1:g.15298294_15298299del	GRCh37
NC_000019.8:g.15159294_15159299del	NCBI36
NG_009819.1:g.18499_18504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-145_1607-140del MANE Select	ENSP00000263388.1:n.1607-145_1607-140del
ENST00000263388.6:c.1607-145_1607-140del	ENSP00000263388.1:n.1607-145_1607-140del
ENST00000601011.1:c.1604-145_1604-140del	ENSP00000473138.1:n.1604-145_1604-140del
NM_000435.2:c.1607-145_1607-140del	NP_000426.2:n.1607-145_1607-140del
XM_005259924.3:c.1607-145_1607-140del	XP_005259981.1:n.1607-145_1607-140del
XM_005259924.4:c.1607-145_1607-140del	XP_005259981.1:n.1607-145_1607-140del
NM_000435.3:c.1607-145_1607-140del MANE Select	NP_000426.2:n.1607-145_1607-140del