Canonical Allele Identifier: CA2630855393

Gene: STUB1 JMJD8 MSLN

Linked Data

• gnomAD v4: 16-681799-GGAAGAGTGCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681801_681811del , CM000678.2:g.681801_681811del	GRCh38
NC_000016.9:g.731801_731811del , CM000678.1:g.731801_731811del	GRCh37
NC_000016.8:g.671802_671812del	NCBI36
NG_034141.1:g.6691_6701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.533_543del (STUB1) MANE Select	ENSP00000219548.4:p.Glu178AlafsTer6
ENST00000609261.6:c.*984_*994del (JMJD8) MANE Select	ENSP00000477481.1:n.*984_*994del
ENST00000219548.8:c.533_543del (STUB1)	ENSP00000219548.4:p.Glu178AlafsTer6
ENST00000412368.6:c.*984_*994del (JMJD8)	ENSP00000399475.2:n.*984_*994del
ENST00000563505.5:n.629_639del (STUB1)
ENST00000564316.1:c.132_142del (STUB1)
ENST00000564370.5:c.317_327del (STUB1)	ENSP00000456875.1:p.Glu106AlafsTer6
ENST00000565302.5:n.1863_1873del (JMJD8)
ENST00000565677.5:c.317_327del (STUB1)	ENSP00000457228.1:p.Glu106AlafsTer6
ENST00000566181.2:n.302_312del (STUB1)
ENST00000566408.5:c.250_260del (STUB1)
ENST00000567120.5:n.2066_2076del (JMJD8)
ENST00000567173.5:c.476_486del (STUB1)	ENSP00000456591.1:p.Glu159AlafsTer6
ENST00000568689.5:n.1887_1897del (JMJD8)
ENST00000569248.5:n.1107_1117del (STUB1)
ENST00000609261.5:c.*984_*994del (JMJD8)	ENSP00000477481.1:n.*984_*994del
ENST00000620831.4:c.-50+38498_-50+38508del (MSLN)	ENSP00000482893.1:n.-50+38498_-50+38508del
NM_001005920.2:c.*984_*994del (JMJD8)	NP_001005920.2:n.*984_*994del
NM_001293197.1:c.317_327del (STUB1)	NP_001280126.1:p.Glu106AlafsTer6
NM_005861.3:c.533_543del (STUB1)	NP_005852.2:p.Glu178AlafsTer6
XM_005255295.3:c.*1018_*1028del (JMJD8)	XP_005255352.1:n.*1018_*1028del
XM_005255297.3:c.*984_*994del (JMJD8)	XP_005255354.1:n.*984_*994del
XM_011522474.1:c.*984_*994del (JMJD8)	XP_011520776.1:n.*984_*994del
NM_001005920.3:c.*984_*994del (JMJD8)	NP_001005920.3:n.*984_*994del
NM_001323918.2:c.*1018_*1028del (JMJD8)	NP_001310847.2:n.*1018_*1028del
NM_001323919.2:c.*984_*994del (JMJD8)	NP_001310848.2:n.*984_*994del
NM_001323920.2:c.*984_*994del (JMJD8)	NP_001310849.2:n.*984_*994del
NM_001323922.2:c.*1018_*1028del (JMJD8)	NP_001310851.2:n.*1018_*1028del
NR_136650.2:n.1877_1887del (JMJD8)
NR_136651.2:n.1882_1892del (JMJD8)
NR_136652.2:n.1792_1802del (JMJD8)
NM_001005920.4:c.*984_*994del (JMJD8) MANE Select	NP_001005920.3:n.*984_*994del
NM_005861.4:c.533_543del (STUB1) MANE Select	NP_005852.2:p.Glu178AlafsTer6
NM_001293197.2:c.317_327del (STUB1)	NP_001280126.1:p.Glu106AlafsTer6
NM_001323918.3:c.*1018_*1028del (JMJD8)	NP_001310847.2:n.*1018_*1028del
NM_001323919.3:c.*984_*994del (JMJD8)	NP_001310848.2:n.*984_*994del
NM_001323920.3:c.*984_*994del (JMJD8)	NP_001310849.2:n.*984_*994del
NM_001323922.3:c.*1018_*1028del (JMJD8)	NP_001310851.2:n.*1018_*1028del
NR_136650.3:n.1877_1887del (JMJD8)
NR_136651.3:n.1882_1892del (JMJD8)
NR_136652.3:n.1792_1802del (JMJD8)