Canonical Allele Identifier: CA1139666341
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 994560
ClinVar RCV Id: RCV001288092
dbSNP Id: rs2046931882
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192034_15192127delinsT , CM000681.2:g.15192034_15192127delinsT GRCh38
NC_000019.9:g.15302845_15302938delinsT , CM000681.1:g.15302845_15302938delinsT GRCh37
NC_000019.8:g.15163845_15163938delinsT NCBI36
NG_009819.1:g.13855_13948delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.512_605delinsA MANE Select ENSP00000263388.1:p.Gly171_Ala202delinsGlu
ENST00000263388.6:c.512_605delinsA ENSP00000263388.1:p.Gly171_Ala202delinsGlu
ENST00000601011.1:c.509_602delinsA ENSP00000473138.1:p.Gly170_Ala201delinsGlu
NM_000435.2:c.512_605delinsA NP_000426.2:p.Gly171_Ala202delinsGlu
XM_005259924.3:c.512_605delinsA XP_005259981.1:p.Gly171_Ala202delinsGlu
XM_005259924.4:c.512_605delinsA XP_005259981.1:p.Gly171_Ala202delinsGlu
NM_000435.3:c.512_605delinsA MANE Select NP_000426.2:p.Gly171_Ala202delinsGlu
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