Canonical Allele Identifier: CA993904791
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v3: 19-15187471-G-GCCCCC
gnomAD v4: 19-15187471-G-GCCCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187475_15187476insCCCCC , CM000681.2:g.15187475_15187476insCCCCC GRCh38
NC_000019.9:g.15298286_15298287insCCCCC , CM000681.1:g.15298286_15298287insCCCCC GRCh37
NC_000019.8:g.15159286_15159287insCCCCC NCBI36
NG_009819.1:g.18510_18511insGGGGG

Transcript Alleles

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