Canonical Allele Identifier: CA2735783946
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145432810

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187145del , CM000681.2:g.15187145del GRCh38
NC_000019.9:g.15297956del , CM000681.1:g.15297956del GRCh37
NC_000019.8:g.15158956del NCBI36
NG_009819.1:g.18838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1801del MANE Select ENSP00000263388.1:p.Val601TrpfsTer15
ENST00000263388.6:c.1801del ENSP00000263388.1:p.Val601TrpfsTer15
ENST00000601011.1:c.1798del ENSP00000473138.1:p.Val600TrpfsTer15
NM_000435.2:c.1801del NP_000426.2:p.Val601TrpfsTer15
XM_005259924.3:c.1801del XP_005259981.1:p.Val601TrpfsTer15
XM_005259924.4:c.1801del XP_005259981.1:p.Val601TrpfsTer15
NM_000435.3:c.1801del MANE Select NP_000426.2:p.Val601TrpfsTer15