Canonical Allele Identifier: CA2583065569

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15192181-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192183del , CM000681.2:g.15192183del	GRCh38
NC_000019.9:g.15302994del , CM000681.1:g.15302994del	GRCh37
NC_000019.8:g.15163994del	NCBI36
NG_009819.1:g.13800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.457del MANE Select	ENSP00000263388.1:p.Arg153AlafsTer?
ENST00000263388.6:c.457del	ENSP00000263388.1:p.Arg153AlafsTer?
ENST00000601011.1:c.454del	ENSP00000473138.1:p.Arg152AlafsTer?
NM_000435.2:c.457del	NP_000426.2:p.Arg153AlafsTer?
XM_005259924.3:c.457del	XP_005259981.1:p.Arg153AlafsTer?
XM_005259924.4:c.457del	XP_005259981.1:p.Arg153AlafsTer?
NM_000435.3:c.457del MANE Select	NP_000426.2:p.Arg153AlafsTer?