Canonical Allele Identifier: CA2512937571
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192037_15192042del , CM000681.2:g.15192037_15192042del GRCh38
NC_000019.9:g.15302848_15302853del , CM000681.1:g.15302848_15302853del GRCh37
NC_000019.8:g.15163848_15163853del NCBI36
NG_009819.1:g.13940_13945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.597_602del MANE Select ENSP00000263388.1:p.Pro200_Cys201del
ENST00000263388.6:c.597_602del ENSP00000263388.1:p.Pro200_Cys201del
ENST00000601011.1:c.594_599del ENSP00000473138.1:p.Pro199_Cys200del
NM_000435.2:c.597_602del NP_000426.2:p.Pro200_Cys201del
XM_005259924.3:c.597_602del XP_005259981.1:p.Pro200_Cys201del
XM_005259924.4:c.597_602del XP_005259981.1:p.Pro200_Cys201del
NM_000435.3:c.597_602del MANE Select NP_000426.2:p.Pro200_Cys201del
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