Canonical Allele Identifier: CA2324744368
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180425_15180429delinsTACAC , CM000681.2:g.15180425_15180429delinsTACAC GRCh38
NC_000019.9:g.15291236_15291240delinsTACAC , CM000681.1:g.15291236_15291240delinsTACAC GRCh37
NC_000019.8:g.15152236_15152240delinsTACAC NCBI36
NG_009819.1:g.25553_25557delinsGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-173_3143-169delinsGTGTA MANE Select ENSP00000263388.1:n.3143-173_3143-169delinsGTGTA
ENST00000263388.6:c.3143-173_3143-169delinsGTGTA ENSP00000263388.1:n.3143-173_3143-169delinsGTGTA
ENST00000601011.1:c.2984-173_2984-169delinsGTGTA ENSP00000473138.1:n.2984-173_2984-169delinsGTGTA
NM_000435.2:c.3143-173_3143-169delinsGTGTA NP_000426.2:n.3143-173_3143-169delinsGTGTA
XM_005259924.3:c.2987-173_2987-169delinsGTGTA XP_005259981.1:n.2987-173_2987-169delinsGTGTA
XM_005259924.4:c.2987-173_2987-169delinsGTGTA XP_005259981.1:n.2987-173_2987-169delinsGTGTA
NM_000435.3:c.3143-173_3143-169delinsGTGTA MANE Select NP_000426.2:n.3143-173_3143-169delinsGTGTA