Canonical Allele Identifier: CA156427150
Gene: JAZF1 HGNC NCBI

Linked Data

dbSNP Id: rs11454114
gnomAD v2: 7-28180515-A-AG
gnomAD v3: 7-28140896-A-AG
gnomAD v4: 7-28140896-A-AG
MyVariant Identifiers: chr7:g.28180515_28180516insG (hg19) chr7:g.28140896_28140897insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.28140897dup , CM000669.2:g.28140897dup GRCh38
NC_000007.13:g.28180516dup , CM000669.1:g.28180516dup GRCh37
NC_000007.12:g.28147041dup NCBI36
NG_011499.1:g.44922dup

Transcript Alleles

HGVS Amino-acid change
ENST00000283928.10:c.115+39566dup MANE Select ENSP00000283928.5:n.115+39566dup
ENST00000649905.1:c.116-39093dup ENSP00000497321.1:n.116-39093dup
ENST00000283928.9:c.115+39566dup ENSP00000283928.5:n.115+39566dup
ENST00000452993.5:c.115+39566dup ENSP00000415984.1:n.115+39566dup
ENST00000454041.1:c.115+39566dup ENSP00000399083.1:n.115+39566dup
NM_175061.3:c.115+39566dup NP_778231.2:n.115+39566dup
XM_006715656.1:c.-140+39566dup XP_006715719.1:n.-140+39566dup
XR_926924.1:n.230+39566dup
NM_175061.4:c.115+39566dup MANE Select NP_778231.2:n.115+39566dup
Search 100 bp 5'
Search 100 bp 3'