Canonical Allele Identifier: CA2324746234
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184250_15184252delinsCTG , CM000681.2:g.15184250_15184252delinsCTG GRCh38
NC_000019.9:g.15295061_15295063delinsCTG , CM000681.1:g.15295061_15295063delinsCTG GRCh37
NC_000019.8:g.15156061_15156063delinsCTG NCBI36
NG_009819.1:g.21730_21732delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2566+43_2566+45delinsCAG MANE Select ENSP00000263388.1:n.2566+43_2566+45delinsCAG
ENST00000263388.6:c.2566+43_2566+45delinsCAG ENSP00000263388.1:n.2566+43_2566+45delinsCAG
ENST00000601011.1:c.2407+654_2407+656delinsCAG ENSP00000473138.1:n.2407+654_2407+656delinsCAG
NM_000435.2:c.2566+43_2566+45delinsCAG NP_000426.2:n.2566+43_2566+45delinsCAG
XM_005259924.3:c.2410+654_2410+656delinsCAG XP_005259981.1:n.2410+654_2410+656delinsCAG
XM_005259924.4:c.2410+654_2410+656delinsCAG XP_005259981.1:n.2410+654_2410+656delinsCAG
NM_000435.3:c.2566+43_2566+45delinsCAG MANE Select NP_000426.2:n.2566+43_2566+45delinsCAG