Canonical Allele Identifier: CA2695228454
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192117_15192118delinsCA , CM000681.2:g.15192117_15192118delinsCA GRCh38
NC_000019.9:g.15302928_15302929delinsCA , CM000681.1:g.15302928_15302929delinsCA GRCh37
NC_000019.8:g.15163928_15163929delinsCA NCBI36
NG_009819.1:g.13864_13865delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.521_522delinsTG MANE Select ENSP00000263388.1:p.Cys174Leu
ENST00000263388.6:c.521_522delinsTG ENSP00000263388.1:p.Cys174Leu
ENST00000601011.1:c.518_519delinsTG ENSP00000473138.1:p.Cys173Leu
NM_000435.2:c.521_522delinsTG NP_000426.2:p.Cys174Leu
XM_005259924.3:c.521_522delinsTG XP_005259981.1:p.Cys174Leu
XM_005259924.4:c.521_522delinsTG XP_005259981.1:p.Cys174Leu
NM_000435.3:c.521_522delinsTG MANE Select NP_000426.2:p.Cys174Leu
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