Canonical Allele Identifier: CA1015388182
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067515168
gnomAD v3: 20-10673676-AAAC-A
gnomAD v4: 20-10673676-AAAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673681_10673683del , CM000682.2:g.10673681_10673683del GRCh38
NC_000020.10:g.10654329_10654331del , CM000682.1:g.10654329_10654331del GRCh37
NC_000020.9:g.10602329_10602331del NCBI36
NG_007496.1:g.5368_5370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-149_-147del MANE Select ENSP00000254958.4:n.-149_-147del
ENST00000254958.9:c.-149_-147del ENSP00000254958.4:n.-149_-147del
NM_000214.2:c.-149_-147del NP_000205.1:n.-149_-147del
NM_000214.3:c.-149_-147del MANE Select NP_000205.1:n.-149_-147del
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