Canonical Allele Identifier: CA1099663967

Gene: JAZF1

Linked Data

• gnomAD v3: 7-27937095-C-CTTTTTTT
• gnomAD v4: 7-27937095-C-CTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27937097_27937098insTTTTTTT , CM000669.2:g.27937097_27937098insTTTTTTT	GRCh38
NC_000007.13:g.27976716_27976717insTTTTTTT , CM000669.1:g.27976716_27976717insTTTTTTT	GRCh37
NC_000007.12:g.27943241_27943242insTTTTTTT	NCBI36
NG_011499.1:g.248723_248724insAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.189-41680_189-41679insAAAAAAA MANE Select	ENSP00000283928.5:n.189-41680_189-41679insAAAAAAA
ENST00000649905.1:c.*231-41680_*231-41679insAAAAAAA	ENSP00000497321.1:n.*231-41680_*231-41679insAAAAAAA
ENST00000283928.9:c.189-41680_189-41679insAAAAAAA	ENSP00000283928.5:n.189-41680_189-41679insAAAAAAA
ENST00000420835.4:n.321-41680_321-41679insAAAAAAA
ENST00000427814.5:c.149-41680_149-41679insAAAAAAA
ENST00000430432.5:c.90-41680_90-41679insAAAAAAA	ENSP00000387976.1:n.90-41680_90-41679insAAAAAAA
ENST00000447620.5:c.117-41680_117-41679insAAAAAAA	ENSP00000415096.1:n.117-41680_117-41679insAAAAAAA
ENST00000452993.5:c.189-22288_189-22287insAAAAAAA	ENSP00000415984.1:n.189-22288_189-22287insAAAAAAA
ENST00000454041.1:c.189-23643_189-23642insAAAAAAA	ENSP00000399083.1:n.189-23643_189-23642insAAAAAAA
NM_175061.3:c.189-41680_189-41679insAAAAAAA	NP_778231.2:n.189-41680_189-41679insAAAAAAA
XM_006715656.1:c.-66-23643_-66-23642insAAAAAAA	XP_006715719.1:n.-66-23643_-66-23642insAAAAAAA
XR_926924.1:n.333-23643_333-23642insAAAAAAA
NM_175061.4:c.189-41680_189-41679insAAAAAAA MANE Select	NP_778231.2:n.189-41680_189-41679insAAAAAAA