Canonical Allele Identifier: CA634455514
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1439872095
gnomAD v2: 20-10654467-CT-C
gnomAD v3: 20-10673819-CT-C
gnomAD v4: 20-10673819-CT-C
MyVariant Identifiers: chr20:g.10654468del (hg19) chr20:g.10673820del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673820del , CM000682.2:g.10673820del GRCh38
NC_000020.10:g.10654468del , CM000682.1:g.10654468del GRCh37
NC_000020.9:g.10602468del NCBI36
NG_007496.1:g.5227del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-290del MANE Select ENSP00000254958.4:n.-290del
ENST00000254958.9:c.-290del ENSP00000254958.4:n.-290del
NM_000214.2:c.-290del NP_000205.1:n.-290del
NM_000214.3:c.-290del MANE Select NP_000205.1:n.-290del
Search 100 bp 5'
Search 100 bp 3'