Canonical Allele Identifier: CA311350833
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1016580452
gnomAD v2: 20-10636833-GA-G
gnomAD v3: 20-10656185-GA-G
gnomAD v4: 20-10656185-GA-G
MyVariant Identifiers: chr20:g.10636834del (hg19) chr20:g.10656186del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656186del , CM000682.2:g.10656186del GRCh38
NC_000020.10:g.10636834del , CM000682.1:g.10636834del GRCh37
NC_000020.9:g.10584834del NCBI36
NG_007496.1:g.22861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.755+212del MANE Select ENSP00000254958.4:n.755+212del
ENST00000254958.9:c.755+212del ENSP00000254958.4:n.755+212del
ENST00000423891.6:n.621+212del
NM_000214.2:c.755+212del NP_000205.1:n.755+212del
NM_000214.3:c.755+212del MANE Select NP_000205.1:n.755+212del
Search 100 bp 5'
Search 100 bp 3'