Canonical Allele Identifier: CA2576654649
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184218A>T , CM000681.2:g.15184218A>T GRCh38
NC_000019.9:g.15295029A>T , CM000681.1:g.15295029A>T GRCh37
NC_000019.8:g.15156029A>T NCBI36
NG_009819.1:g.21764T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2566+77T>A MANE Select ENSP00000263388.1:n.2566+77T>A
ENST00000263388.6:c.2566+77T>A ENSP00000263388.1:n.2566+77T>A
ENST00000601011.1:c.2407+688T>A ENSP00000473138.1:n.2407+688T>A
NM_000435.2:c.2566+77T>A NP_000426.2:n.2566+77T>A
XM_005259924.3:c.2410+688T>A XP_005259981.1:n.2410+688T>A
XM_005259924.4:c.2410+688T>A XP_005259981.1:n.2410+688T>A
NM_000435.3:c.2566+77T>A MANE Select NP_000426.2:n.2566+77T>A
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