Canonical Allele Identifier: CA2324749892

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2046930075

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191890del , CM000681.2:g.15191890del	GRCh38
NC_000019.9:g.15302701del , CM000681.1:g.15302701del	GRCh37
NC_000019.8:g.15163701del	NCBI36
NG_009819.1:g.14092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.680-23del MANE Select	ENSP00000263388.1:n.680-23del
ENST00000263388.6:c.680-23del	ENSP00000263388.1:n.680-23del
ENST00000601011.1:c.677-23del	ENSP00000473138.1:n.677-23del
NM_000435.2:c.680-23del	NP_000426.2:n.680-23del
XM_005259924.3:c.680-23del	XP_005259981.1:n.680-23del
XM_005259924.4:c.680-23del	XP_005259981.1:n.680-23del
NM_000435.3:c.680-23del MANE Select	NP_000426.2:n.680-23del