Canonical Allele Identifier: CA2813728306

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187047_15187048dup , CM000681.2:g.15187047_15187048dup	GRCh38
NC_000019.9:g.15297858_15297859dup , CM000681.1:g.15297858_15297859dup	GRCh37
NC_000019.8:g.15158858_15158859dup	NCBI36
NG_009819.1:g.18934_18935dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1840+57_1841-59dup MANE Select	ENSP00000263388.1:n.1840+57_1841-59dup
ENST00000263388.6:c.1840+57_1841-59dup	ENSP00000263388.1:n.1840+57_1841-59dup
ENST00000601011.1:c.1837+57_1838-59dup	ENSP00000473138.1:n.1837+57_1838-59dup
NM_000435.2:c.1840+57_1841-59dup	NP_000426.2:n.1840+57_1841-59dup
XM_005259924.3:c.1840+57_1841-59dup	XP_005259981.1:n.1840+57_1841-59dup
XM_005259924.4:c.1840+57_1841-59dup	XP_005259981.1:n.1840+57_1841-59dup
NM_000435.3:c.1840+57_1841-59dup MANE Select	NP_000426.2:n.1840+57_1841-59dup