Canonical Allele Identifier: CA2813714781
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180398_15180399insAAACACACC , CM000681.2:g.15180398_15180399insAAACACACC GRCh38
NC_000019.9:g.15291209_15291210insAAACACACC , CM000681.1:g.15291209_15291210insAAACACACC GRCh37
NC_000019.8:g.15152209_15152210insAAACACACC NCBI36
NG_009819.1:g.25585_25586insTGTGTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-141_3143-140insTGTGTTTGG MANE Select ENSP00000263388.1:n.3143-141_3143-140insTGTGTTTGG
ENST00000263388.6:c.3143-141_3143-140insTGTGTTTGG ENSP00000263388.1:n.3143-141_3143-140insTGTGTTTGG
ENST00000601011.1:c.2984-141_2984-140insTGTGTTTGG ENSP00000473138.1:n.2984-141_2984-140insTGTGTTTGG
NM_000435.2:c.3143-141_3143-140insTGTGTTTGG NP_000426.2:n.3143-141_3143-140insTGTGTTTGG
XM_005259924.3:c.2987-141_2987-140insTGTGTTTGG XP_005259981.1:n.2987-141_2987-140insTGTGTTTGG
XM_005259924.4:c.2987-141_2987-140insTGTGTTTGG XP_005259981.1:n.2987-141_2987-140insTGTGTTTGG
NM_000435.3:c.3143-141_3143-140insTGTGTTTGG MANE Select NP_000426.2:n.3143-141_3143-140insTGTGTTTGG