Canonical Allele Identifier: CA2324744462

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2046831323
• gnomAD v4: 19-15180624-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180625_15180626dup , CM000681.2:g.15180625_15180626dup	GRCh38
NC_000019.9:g.15291436_15291437dup , CM000681.1:g.15291436_15291437dup	GRCh37
NC_000019.8:g.15152436_15152437dup	NCBI36
NG_009819.1:g.25356_25357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3142+55_3142+56dup MANE Select	ENSP00000263388.1:n.3142+55_3142+56dup
ENST00000263388.6:c.3142+55_3142+56dup	ENSP00000263388.1:n.3142+55_3142+56dup
ENST00000601011.1:c.2983+55_2983+56dup	ENSP00000473138.1:n.2983+55_2983+56dup
NM_000435.2:c.3142+55_3142+56dup	NP_000426.2:n.3142+55_3142+56dup
XM_005259924.3:c.2986+55_2986+56dup	XP_005259981.1:n.2986+55_2986+56dup
XM_005259924.4:c.2986+55_2986+56dup	XP_005259981.1:n.2986+55_2986+56dup
NM_000435.3:c.3142+55_3142+56dup MANE Select	NP_000426.2:n.3142+55_3142+56dup