Canonical Allele Identifier: CA2735784776
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145433691

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187468_15187469insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000681.2:g.15187468_15187469insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GRCh38
NC_000019.9:g.15298279_15298280insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000681.1:g.15298279_15298280insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GRCh37
NC_000019.8:g.15159279_15159280insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG NCBI36
NG_009819.1:g.18513_18514insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG MANE Select ENSP00000263388.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCC...
ENST00000263388.6:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG ENSP00000263388.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCC...
ENST00000601011.1:c.1604-131_1604-130insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG ENSP00000473138.1:n.1604-131_1604-130insCCCCCCCCCCCCCCCCCCCCC...
NM_000435.2:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG NP_000426.2:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCC...
XM_005259924.3:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG XP_005259981.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCC...
XM_005259924.4:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG XP_005259981.1:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCC...
NM_000435.3:c.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG MANE Select NP_000426.2:n.1607-131_1607-130insCCCCCCCCCCCCCCCCCCCCCCCCCCC...