Canonical Allele Identifier: CA993900415

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2046830118
• gnomAD v3: 19-15180458-C-CGA
• gnomAD v4: 19-15180458-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180459_15180460insAG , CM000681.2:g.15180459_15180460insAG	GRCh38
NC_000019.9:g.15291270_15291271insAG , CM000681.1:g.15291270_15291271insAG	GRCh37
NC_000019.8:g.15152270_15152271insAG	NCBI36
NG_009819.1:g.25523_25524insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3143-203_3143-202insTC MANE Select	ENSP00000263388.1:n.3143-203_3143-202insTC
ENST00000263388.6:c.3143-203_3143-202insTC	ENSP00000263388.1:n.3143-203_3143-202insTC
ENST00000601011.1:c.2984-203_2984-202insTC	ENSP00000473138.1:n.2984-203_2984-202insTC
NM_000435.2:c.3143-203_3143-202insTC	NP_000426.2:n.3143-203_3143-202insTC
XM_005259924.3:c.2987-203_2987-202insTC	XP_005259981.1:n.2987-203_2987-202insTC
XM_005259924.4:c.2987-203_2987-202insTC	XP_005259981.1:n.2987-203_2987-202insTC
NM_000435.3:c.3143-203_3143-202insTC MANE Select	NP_000426.2:n.3143-203_3143-202insTC