Canonical Allele Identifier: CA2583064868
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187482_15187483insCCCCCCCCAC , CM000681.2:g.15187482_15187483insCCCCCCCCAC GRCh38
NC_000019.9:g.15298293_15298294insCCCCCCCCAC , CM000681.1:g.15298293_15298294insCCCCCCCCAC GRCh37
NC_000019.8:g.15159293_15159294insCCCCCCCCAC NCBI36
NG_009819.1:g.18500_18501insTGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-144_1607-143insTGGGGGGGGG MANE Select ENSP00000263388.1:n.1607-144_1607-143insTGGGGGGGGG
ENST00000263388.6:c.1607-144_1607-143insTGGGGGGGGG ENSP00000263388.1:n.1607-144_1607-143insTGGGGGGGGG
ENST00000601011.1:c.1604-144_1604-143insTGGGGGGGGG ENSP00000473138.1:n.1604-144_1604-143insTGGGGGGGGG
NM_000435.2:c.1607-144_1607-143insTGGGGGGGGG NP_000426.2:n.1607-144_1607-143insTGGGGGGGGG
XM_005259924.3:c.1607-144_1607-143insTGGGGGGGGG XP_005259981.1:n.1607-144_1607-143insTGGGGGGGGG
XM_005259924.4:c.1607-144_1607-143insTGGGGGGGGG XP_005259981.1:n.1607-144_1607-143insTGGGGGGGGG
NM_000435.3:c.1607-144_1607-143insTGGGGGGGGG MANE Select NP_000426.2:n.1607-144_1607-143insTGGGGGGGGG