Canonical Allele Identifier: CA9263126
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs765127752
ExAC: 19:15290861 CT / C
gnomAD v2: 19-15290861-CT-C
gnomAD v4: 19-15180050-CT-C
MyVariant Identifiers: chr19:g.15290862del (hg19) chr19:g.15180051del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180051del , CM000681.2:g.15180051del GRCh38
NC_000019.9:g.15290862del , CM000681.1:g.15290862del GRCh37
NC_000019.8:g.15151862del NCBI36
NG_009819.1:g.25931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3327+21del MANE Select ENSP00000263388.1:n.3327+21del
ENST00000263388.6:c.3327+21del ENSP00000263388.1:n.3327+21del
ENST00000601011.1:c.3168+21del ENSP00000473138.1:n.3168+21del
NM_000435.2:c.3327+21del NP_000426.2:n.3327+21del
XM_005259924.3:c.3171+21del XP_005259981.1:n.3171+21del
XM_005259924.4:c.3171+21del XP_005259981.1:n.3171+21del
NM_000435.3:c.3327+21del MANE Select NP_000426.2:n.3327+21del
Search 100 bp 5'
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