Canonical Allele Identifier: CA2324747707
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187291_15187292delinsCA , CM000681.2:g.15187291_15187292delinsCA GRCh38
NC_000019.9:g.15298102_15298103delinsCA , CM000681.1:g.15298102_15298103delinsCA GRCh37
NC_000019.8:g.15159102_15159103delinsCA NCBI36
NG_009819.1:g.18690_18691delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1653_1654delinsTG MANE Select ENSP00000263388.1:p.Pro551=
ENST00000263388.6:c.1653_1654delinsTG ENSP00000263388.1:p.Pro551=
ENST00000601011.1:c.1650_1651delinsTG ENSP00000473138.1:p.Pro550=
NM_000435.2:c.1653_1654delinsTG NP_000426.2:p.Pro551=
XM_005259924.3:c.1653_1654delinsTG XP_005259981.1:p.Pro551=
XM_005259924.4:c.1653_1654delinsTG XP_005259981.1:p.Pro551=
NM_000435.3:c.1653_1654delinsTG MANE Select NP_000426.2:p.Pro551=
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