Canonical Allele Identifier: CA837251980

Gene: JAZF1

Linked Data

• dbSNP Id: rs1263746288
• gnomAD v3: 7-27936934-CTAAGTT-C
• gnomAD v4: 7-27936934-CTAAGTT-C
• MyVariant Identifiers: chr7:g.27976554_27976559del (hg19) ; chr7:g.27936935_27936940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27936940_27936945del , CM000669.2:g.27936940_27936945del	GRCh38
NC_000007.13:g.27976559_27976564del , CM000669.1:g.27976559_27976564del	GRCh37
NC_000007.12:g.27943084_27943089del	NCBI36
NG_011499.1:g.248879_248884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.189-41524_189-41519del MANE Select	ENSP00000283928.5:n.189-41524_189-41519del
ENST00000649905.1:c.*231-41524_*231-41519del	ENSP00000497321.1:n.*231-41524_*231-41519del
ENST00000283928.9:c.189-41524_189-41519del	ENSP00000283928.5:n.189-41524_189-41519del
ENST00000420835.4:n.321-41524_321-41519del
ENST00000427814.5:c.149-41524_149-41519del
ENST00000430432.5:c.90-41524_90-41519del	ENSP00000387976.1:n.90-41524_90-41519del
ENST00000447620.5:c.117-41524_117-41519del	ENSP00000415096.1:n.117-41524_117-41519del
ENST00000452993.5:c.189-22132_189-22127del	ENSP00000415984.1:n.189-22132_189-22127del
ENST00000454041.1:c.189-23487_189-23482del	ENSP00000399083.1:n.189-23487_189-23482del
NM_175061.3:c.189-41524_189-41519del	NP_778231.2:n.189-41524_189-41519del
XM_006715656.1:c.-66-23487_-66-23482del	XP_006715719.1:n.-66-23487_-66-23482del
XR_926924.1:n.333-23487_333-23482del
NM_175061.4:c.189-41524_189-41519del MANE Select	NP_778231.2:n.189-41524_189-41519del