Canonical Allele Identifier: CA993904811
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187475_15187476insCCCCCCCCCC , CM000681.2:g.15187475_15187476insCCCCCCCCCC GRCh38
NC_000019.9:g.15298286_15298287insCCCCCCCCCC , CM000681.1:g.15298286_15298287insCCCCCCCCCC GRCh37
NC_000019.8:g.15159286_15159287insCCCCCCCCCC NCBI36
NG_009819.1:g.18510_18511insGGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-134_1607-133insGGGGGGGGGG MANE Select ENSP00000263388.1:n.1607-134_1607-133insGGGGGGGGGG
ENST00000263388.6:c.1607-134_1607-133insGGGGGGGGGG ENSP00000263388.1:n.1607-134_1607-133insGGGGGGGGGG
ENST00000601011.1:c.1604-134_1604-133insGGGGGGGGGG ENSP00000473138.1:n.1604-134_1604-133insGGGGGGGGGG
NM_000435.2:c.1607-134_1607-133insGGGGGGGGGG NP_000426.2:n.1607-134_1607-133insGGGGGGGGGG
XM_005259924.3:c.1607-134_1607-133insGGGGGGGGGG XP_005259981.1:n.1607-134_1607-133insGGGGGGGGGG
XM_005259924.4:c.1607-134_1607-133insGGGGGGGGGG XP_005259981.1:n.1607-134_1607-133insGGGGGGGGGG
NM_000435.3:c.1607-134_1607-133insGGGGGGGGGG MANE Select NP_000426.2:n.1607-134_1607-133insGGGGGGGGGG