Canonical Allele Identifier: CA1099675836

Gene: JAZF1

Linked Data

• dbSNP Id: rs1782951106
• gnomAD v3: 7-28140901-C-CAT
• gnomAD v4: 7-28140901-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.28140905_28140906dup , CM000669.2:g.28140905_28140906dup	GRCh38
NC_000007.13:g.28180524_28180525dup , CM000669.1:g.28180524_28180525dup	GRCh37
NC_000007.12:g.28147049_28147050dup	NCBI36
NG_011499.1:g.44916_44917dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000283928.10:c.115+39560_115+39561dup MANE Select	ENSP00000283928.5:n.115+39560_115+39561dup
ENST00000649905.1:c.116-39099_116-39098dup	ENSP00000497321.1:n.116-39099_116-39098dup
ENST00000283928.9:c.115+39560_115+39561dup	ENSP00000283928.5:n.115+39560_115+39561dup
ENST00000452993.5:c.115+39560_115+39561dup	ENSP00000415984.1:n.115+39560_115+39561dup
ENST00000454041.1:c.115+39560_115+39561dup	ENSP00000399083.1:n.115+39560_115+39561dup
NM_175061.3:c.115+39560_115+39561dup	NP_778231.2:n.115+39560_115+39561dup
XM_006715656.1:c.-140+39560_-140+39561dup	XP_006715719.1:n.-140+39560_-140+39561dup
XR_926924.1:n.230+39560_230+39561dup
NM_175061.4:c.115+39560_115+39561dup MANE Select	NP_778231.2:n.115+39560_115+39561dup