Canonical Allele Identifier: CA573614286

Gene: JAZF1

Linked Data

• dbSNP Id: rs1231115643
• gnomAD v2: 7-27976640-CTAAA-C
• gnomAD v3: 7-27937021-CTAAA-C
• gnomAD v4: 7-27937021-CTAAA-C
• MyVariant Identifiers: chr7:g.27976641_27976644del (hg19) ; chr7:g.27937022_27937025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27937025_27937028del , CM000669.2:g.27937025_27937028del	GRCh38
NC_000007.13:g.27976644_27976647del , CM000669.1:g.27976644_27976647del	GRCh37
NC_000007.12:g.27943169_27943172del	NCBI36
NG_011499.1:g.248794_248797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.189-41609_189-41606del MANE Select	ENSP00000283928.5:n.189-41609_189-41606del
ENST00000649905.1:c.*231-41609_*231-41606del	ENSP00000497321.1:n.*231-41609_*231-41606del
ENST00000283928.9:c.189-41609_189-41606del	ENSP00000283928.5:n.189-41609_189-41606del
ENST00000420835.4:n.321-41609_321-41606del
ENST00000427814.5:c.149-41609_149-41606del
ENST00000430432.5:c.90-41609_90-41606del	ENSP00000387976.1:n.90-41609_90-41606del
ENST00000447620.5:c.117-41609_117-41606del	ENSP00000415096.1:n.117-41609_117-41606del
ENST00000452993.5:c.189-22217_189-22214del	ENSP00000415984.1:n.189-22217_189-22214del
ENST00000454041.1:c.189-23572_189-23569del	ENSP00000399083.1:n.189-23572_189-23569del
NM_175061.3:c.189-41609_189-41606del	NP_778231.2:n.189-41609_189-41606del
XM_006715656.1:c.-66-23572_-66-23569del	XP_006715719.1:n.-66-23572_-66-23569del
XR_926924.1:n.333-23572_333-23569del
NM_175061.4:c.189-41609_189-41606del MANE Select	NP_778231.2:n.189-41609_189-41606del