Canonical Allele Identifier: CA783615751
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1184883364
gnomAD v3: 19-15180436-GC-G
gnomAD v4: 19-15180436-GC-G
MyVariant Identifiers: chr19:g.15291248del (hg19) chr19:g.15180437del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180438del , CM000681.2:g.15180438del GRCh38
NC_000019.9:g.15291249del , CM000681.1:g.15291249del GRCh37
NC_000019.8:g.15152249del NCBI36
NG_009819.1:g.25545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-181del MANE Select ENSP00000263388.1:n.3143-181del
ENST00000263388.6:c.3143-181del ENSP00000263388.1:n.3143-181del
ENST00000601011.1:c.2984-181del ENSP00000473138.1:n.2984-181del
NM_000435.2:c.3143-181del NP_000426.2:n.3143-181del
XM_005259924.3:c.2987-181del XP_005259981.1:n.2987-181del
XM_005259924.4:c.2987-181del XP_005259981.1:n.2987-181del
NM_000435.3:c.3143-181del MANE Select NP_000426.2:n.3143-181del
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