Canonical Allele Identifier: CA2324747682
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187242_15187244delinsCAT , CM000681.2:g.15187242_15187244delinsCAT GRCh38
NC_000019.9:g.15298053_15298055delinsCAT , CM000681.1:g.15298053_15298055delinsCAT GRCh37
NC_000019.8:g.15159053_15159055delinsCAT NCBI36
NG_009819.1:g.18738_18740delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1701_1703delinsATG MANE Select ENSP00000263388.1:p.Ser567=
ENST00000263388.6:c.1701_1703delinsATG ENSP00000263388.1:p.Ser567=
ENST00000601011.1:c.1698_1700delinsATG ENSP00000473138.1:p.Ser566=
NM_000435.2:c.1701_1703delinsATG NP_000426.2:p.Ser567=
XM_005259924.3:c.1701_1703delinsATG XP_005259981.1:p.Ser567=
XM_005259924.4:c.1701_1703delinsATG XP_005259981.1:p.Ser567=
NM_000435.3:c.1701_1703delinsATG MANE Select NP_000426.2:p.Ser567=
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