Canonical Allele Identifier: CA2813714774

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180113dup , CM000681.2:g.15180113dup	GRCh38
NC_000019.9:g.15290924dup , CM000681.1:g.15290924dup	GRCh37
NC_000019.8:g.15151924dup	NCBI36
NG_009819.1:g.25874dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3291dup MANE Select	ENSP00000263388.1:p.Thr1098AspfsTer12
ENST00000263388.6:c.3291dup	ENSP00000263388.1:p.Thr1098AspfsTer12
ENST00000601011.1:c.3132dup	ENSP00000473138.1:p.Thr1045AspfsTer12
NM_000435.2:c.3291dup	NP_000426.2:p.Thr1098AspfsTer12
XM_005259924.3:c.3135dup	XP_005259981.1:p.Thr1046AspfsTer12
XM_005259924.4:c.3135dup	XP_005259981.1:p.Thr1046AspfsTer12
NM_000435.3:c.3291dup MANE Select	NP_000426.2:p.Thr1098AspfsTer12