Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681754_681760delinsGCCAGGT , CM000678.2:g.681754_681760delinsGCCAGGT	GRCh38
NC_000016.9:g.731754_731760delinsGCCAGGT , CM000678.1:g.731754_731760delinsGCCAGGT	GRCh37
NC_000016.8:g.671755_671761delinsGCCAGGT	NCBI36
NG_034141.1:g.6644_6650delinsGCCAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.525-39_525-33delinsGCCAGGT (STUB1) MANE Select	ENSP00000219548.4:n.525-39_525-33delinsGCCAGGT
ENST00000609261.6:c.1034_1040delinsACCTGGC (JMJD8) MANE Select	ENSP00000477481.1:n.1034_1040delinsACCTGGC
ENST00000219548.8:c.525-39_525-33delinsGCCAGGT (STUB1)	ENSP00000219548.4:n.525-39_525-33delinsGCCAGGT
ENST00000412368.6:c.1034_1040delinsACCTGGC (JMJD8)	ENSP00000399475.2:n.1034_1040delinsACCTGGC
ENST00000563505.5:n.621-39_621-33delinsGCCAGGT (STUB1)
ENST00000564316.1:c.124-39_124-33delinsGCCAGGT (STUB1)
ENST00000564370.5:c.309-39_309-33delinsGCCAGGT (STUB1)	ENSP00000456875.1:n.309-39_309-33delinsGCCAGGT
ENST00000565302.5:n.1913_1919delinsACCTGGC (JMJD8)
ENST00000565677.5:c.309-39_309-33delinsGCCAGGT (STUB1)	ENSP00000457228.1:n.309-39_309-33delinsGCCAGGT
ENST00000566181.2:n.294-39_294-33delinsGCCAGGT (STUB1)
ENST00000566408.5:c.242-39_242-33delinsGCCAGGT (STUB1)
ENST00000567120.5:n.2116_2122delinsACCTGGC (JMJD8)
ENST00000567173.5:c.468-39_468-33delinsGCCAGGT (STUB1)	ENSP00000456591.1:n.468-39_468-33delinsGCCAGGT
ENST00000568689.5:n.1937_1943delinsACCTGGC (JMJD8)
ENST00000569248.5:n.1099-39_1099-33delinsGCCAGGT (STUB1)
ENST00000609261.5:c.1034_1040delinsACCTGGC (JMJD8)	ENSP00000477481.1:n.1034_1040delinsACCTGGC
ENST00000620831.4:c.-50+38451_-50+38457delinsGCCAGGT (MSLN)	ENSP00000482893.1:n.-50+38451_-50+38457delinsGCCAGGT
NM_001005920.2:c.1034_1040delinsACCTGGC (JMJD8)	NP_001005920.2:n.1034_1040delinsACCTGGC
NM_001293197.1:c.309-39_309-33delinsGCCAGGT (STUB1)	NP_001280126.1:n.309-39_309-33delinsGCCAGGT
NM_005861.3:c.525-39_525-33delinsGCCAGGT (STUB1)	NP_005852.2:n.525-39_525-33delinsGCCAGGT
XM_005255295.3:c.1068_1074delinsACCTGGC (JMJD8)	XP_005255352.1:n.1068_1074delinsACCTGGC
XM_005255297.3:c.1034_1040delinsACCTGGC (JMJD8)	XP_005255354.1:n.1034_1040delinsACCTGGC
XM_011522474.1:c.1034_1040delinsACCTGGC (JMJD8)	XP_011520776.1:n.1034_1040delinsACCTGGC
NM_001005920.3:c.1034_1040delinsACCTGGC (JMJD8)	NP_001005920.3:n.1034_1040delinsACCTGGC
NM_001323918.2:c.1068_1074delinsACCTGGC (JMJD8)	NP_001310847.2:n.1068_1074delinsACCTGGC
NM_001323919.2:c.1034_1040delinsACCTGGC (JMJD8)	NP_001310848.2:n.1034_1040delinsACCTGGC
NM_001323920.2:c.1034_1040delinsACCTGGC (JMJD8)	NP_001310849.2:n.1034_1040delinsACCTGGC
NM_001323922.2:c.1068_1074delinsACCTGGC (JMJD8)	NP_001310851.2:n.1068_1074delinsACCTGGC
NR_136650.2:n.1927_1933delinsACCTGGC (JMJD8)
NR_136651.2:n.1932_1938delinsACCTGGC (JMJD8)
NR_136652.2:n.1842_1848delinsACCTGGC (JMJD8)
NM_001005920.4:c.1034_1040delinsACCTGGC (JMJD8) MANE Select	NP_001005920.3:n.1034_1040delinsACCTGGC
NM_005861.4:c.525-39_525-33delinsGCCAGGT (STUB1) MANE Select	NP_005852.2:n.525-39_525-33delinsGCCAGGT
NM_001293197.2:c.309-39_309-33delinsGCCAGGT (STUB1)	NP_001280126.1:n.309-39_309-33delinsGCCAGGT
NM_001323918.3:c.1068_1074delinsACCTGGC (JMJD8)	NP_001310847.2:n.1068_1074delinsACCTGGC
NM_001323919.3:c.1034_1040delinsACCTGGC (JMJD8)	NP_001310848.2:n.1034_1040delinsACCTGGC
NM_001323920.3:c.1034_1040delinsACCTGGC (JMJD8)	NP_001310849.2:n.1034_1040delinsACCTGGC
NM_001323922.3:c.1068_1074delinsACCTGGC (JMJD8)	NP_001310851.2:n.1068_1074delinsACCTGGC
NR_136650.3:n.1927_1933delinsACCTGGC (JMJD8)
NR_136651.3:n.1932_1938delinsACCTGGC (JMJD8)
NR_136652.3:n.1842_1848delinsACCTGGC (JMJD8)