Canonical Allele Identifier: CA620307642

Gene: STUB1 JMJD8 MSLN

Linked Data

• dbSNP Id: rs1371523684
• gnomAD v2: 16-731829-TGAG-T
• gnomAD v3: 16-681829-TGAG-T
• gnomAD v4: 16-681829-TGAG-T
• MyVariant Identifiers: chr16:g.731830_731832del (hg19) ; chr16:g.681830_681832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681832_681834del , CM000678.2:g.681832_681834del	GRCh38
NC_000016.9:g.731832_731834del , CM000678.1:g.731832_731834del	GRCh37
NC_000016.8:g.671833_671835del	NCBI36
NG_034141.1:g.6722_6724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.564_566del (STUB1) MANE Select	ENSP00000219548.4:p.Glu188del
ENST00000609261.6:c.*962_*964del (JMJD8) MANE Select	ENSP00000477481.1:n.*962_*964del
ENST00000219548.8:c.564_566del (STUB1)	ENSP00000219548.4:p.Glu188del
ENST00000412368.6:c.*962_*964del (JMJD8)	ENSP00000399475.2:n.*962_*964del
ENST00000563505.5:n.660_662del (STUB1)
ENST00000564316.1:c.163_165del (STUB1)
ENST00000564370.5:c.348_350del (STUB1)	ENSP00000456875.1:p.Glu116del
ENST00000565302.5:n.1841_1843del (JMJD8)
ENST00000565677.5:c.348_350del (STUB1)	ENSP00000457228.1:p.Glu116del
ENST00000566181.2:n.333_335del (STUB1)
ENST00000566408.5:c.281_283del (STUB1)
ENST00000567120.5:n.2044_2046del (JMJD8)
ENST00000567173.5:c.507_509del (STUB1)	ENSP00000456591.1:p.Glu169del
ENST00000568689.5:n.1865_1867del (JMJD8)
ENST00000569248.5:n.1138_1140del (STUB1)
ENST00000609261.5:c.*962_*964del (JMJD8)	ENSP00000477481.1:n.*962_*964del
ENST00000620831.4:c.-50+38529_-50+38531del (MSLN)	ENSP00000482893.1:n.-50+38529_-50+38531del
NM_001005920.2:c.*962_*964del (JMJD8)	NP_001005920.2:n.*962_*964del
NM_001293197.1:c.348_350del (STUB1)	NP_001280126.1:p.Glu116del
NM_005861.3:c.564_566del (STUB1)	NP_005852.2:p.Glu188del
XM_005255295.3:c.*996_*998del (JMJD8)	XP_005255352.1:n.*996_*998del
XM_005255297.3:c.*962_*964del (JMJD8)	XP_005255354.1:n.*962_*964del
XM_011522474.1:c.*962_*964del (JMJD8)	XP_011520776.1:n.*962_*964del
NM_001005920.3:c.*962_*964del (JMJD8)	NP_001005920.3:n.*962_*964del
NM_001323918.2:c.*996_*998del (JMJD8)	NP_001310847.2:n.*996_*998del
NM_001323919.2:c.*962_*964del (JMJD8)	NP_001310848.2:n.*962_*964del
NM_001323920.2:c.*962_*964del (JMJD8)	NP_001310849.2:n.*962_*964del
NM_001323922.2:c.*996_*998del (JMJD8)	NP_001310851.2:n.*996_*998del
NR_136650.2:n.1855_1857del (JMJD8)
NR_136651.2:n.1860_1862del (JMJD8)
NR_136652.2:n.1770_1772del (JMJD8)
NM_001005920.4:c.*962_*964del (JMJD8) MANE Select	NP_001005920.3:n.*962_*964del
NM_005861.4:c.564_566del (STUB1) MANE Select	NP_005852.2:p.Glu188del
NM_001293197.2:c.348_350del (STUB1)	NP_001280126.1:p.Glu116del
NM_001323918.3:c.*996_*998del (JMJD8)	NP_001310847.2:n.*996_*998del
NM_001323919.3:c.*962_*964del (JMJD8)	NP_001310848.2:n.*962_*964del
NM_001323920.3:c.*962_*964del (JMJD8)	NP_001310849.2:n.*962_*964del
NM_001323922.3:c.*996_*998del (JMJD8)	NP_001310851.2:n.*996_*998del
NR_136650.3:n.1855_1857del (JMJD8)
NR_136651.3:n.1860_1862del (JMJD8)
NR_136652.3:n.1770_1772del (JMJD8)