Canonical Allele Identifier: CA837251940

Gene: JAZF1

Linked Data

• dbSNP Id: rs1380236383
• MyVariant Identifiers: chr7:g.27976443_27976445del (hg19) ; chr7:g.27936824_27936826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27936824_27936826del , CM000669.2:g.27936824_27936826del	GRCh38
NC_000007.13:g.27976443_27976445del , CM000669.1:g.27976443_27976445del	GRCh37
NC_000007.12:g.27942968_27942970del	NCBI36
NG_011499.1:g.248993_248995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.189-41410_189-41408del MANE Select	ENSP00000283928.5:n.189-41410_189-41408del
ENST00000649905.1:c.*231-41410_*231-41408del	ENSP00000497321.1:n.*231-41410_*231-41408del
ENST00000283928.9:c.189-41410_189-41408del	ENSP00000283928.5:n.189-41410_189-41408del
ENST00000420835.4:n.321-41410_321-41408del
ENST00000427814.5:c.149-41410_149-41408del
ENST00000430432.5:c.90-41410_90-41408del	ENSP00000387976.1:n.90-41410_90-41408del
ENST00000447620.5:c.117-41410_117-41408del	ENSP00000415096.1:n.117-41410_117-41408del
ENST00000452993.5:c.189-22018_189-22016del	ENSP00000415984.1:n.189-22018_189-22016del
ENST00000454041.1:c.189-23373_189-23371del	ENSP00000399083.1:n.189-23373_189-23371del
NM_175061.3:c.189-41410_189-41408del	NP_778231.2:n.189-41410_189-41408del
XM_006715656.1:c.-66-23373_-66-23371del	XP_006715719.1:n.-66-23373_-66-23371del
XR_926924.1:n.333-23373_333-23371del
NM_175061.4:c.189-41410_189-41408del MANE Select	NP_778231.2:n.189-41410_189-41408del