Canonical Allele Identifier: CA2735785247
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145440589

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191767del , CM000681.2:g.15191767del GRCh38
NC_000019.9:g.15302578del , CM000681.1:g.15302578del GRCh37
NC_000019.8:g.15163578del NCBI36
NG_009819.1:g.14216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.781del MANE Select ENSP00000263388.1:p.Gln261SerfsTer?
ENST00000263388.6:c.781del ENSP00000263388.1:p.Gln261SerfsTer?
ENST00000601011.1:c.778del ENSP00000473138.1:p.Gln260SerfsTer?
NM_000435.2:c.781del NP_000426.2:p.Gln261SerfsTer?
XM_005259924.3:c.781del XP_005259981.1:p.Gln261SerfsTer?
XM_005259924.4:c.781del XP_005259981.1:p.Gln261SerfsTer?
NM_000435.3:c.781del MANE Select NP_000426.2:p.Gln261SerfsTer?