Canonical Allele Identifier: CA2739276579
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2878108
ClinVar RCV Id: RCV003715323
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192033_15192034delinsCA , CM000681.2:g.15192033_15192034delinsCA GRCh38
NC_000019.9:g.15302844_15302845delinsCA , CM000681.1:g.15302844_15302845delinsCA GRCh37
NC_000019.8:g.15163844_15163845delinsCA NCBI36
NG_009819.1:g.13948_13949delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.605_606delinsTG MANE Select ENSP00000263388.1:p.Ala202Val
ENST00000263388.6:c.605_606delinsTG ENSP00000263388.1:p.Ala202Val
ENST00000601011.1:c.602_603delinsTG ENSP00000473138.1:p.Ala201Val
NM_000435.2:c.605_606delinsTG NP_000426.2:p.Ala202Val
XM_005259924.3:c.605_606delinsTG XP_005259981.1:p.Ala202Val
XM_005259924.4:c.605_606delinsTG XP_005259981.1:p.Ala202Val
NM_000435.3:c.605_606delinsTG MANE Select NP_000426.2:p.Ala202Val
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Search 100 bp 3'