Canonical Allele Identifier: CA2201204818

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681747_681762delinsACATCTGGCCAGGTCC , CM000678.2:g.681747_681762delinsACATCTGGCCAGGTCC GRCh38
NC_000016.9:g.731747_731762delinsACATCTGGCCAGGTCC , CM000678.1:g.731747_731762delinsACATCTGGCCAGGTCC GRCh37
NC_000016.8:g.671748_671763delinsACATCTGGCCAGGTCC NCBI36
NG_034141.1:g.6637_6652delinsACATCTGGCCAGGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.525-46_525-31delinsACATCTGGCCAGGTCC (STUB1) MANE Select ENSP00000219548.4:n.525-46_525-31delinsACATCTGGCCAGGTCC
ENST00000609261.6:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) MANE Select ENSP00000477481.1:n.*1032_*1047delinsGGACCTGGCCAGATGT
ENST00000219548.8:c.525-46_525-31delinsACATCTGGCCAGGTCC (STUB1) ENSP00000219548.4:n.525-46_525-31delinsACATCTGGCCAGGTCC
ENST00000412368.6:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) ENSP00000399475.2:n.*1032_*1047delinsGGACCTGGCCAGATGT
ENST00000563505.5:n.621-46_621-31delinsACATCTGGCCAGGTCC (STUB1)
ENST00000564316.1:c.124-46_124-31delinsACATCTGGCCAGGTCC (STUB1)
ENST00000564370.5:c.309-46_309-31delinsACATCTGGCCAGGTCC (STUB1) ENSP00000456875.1:n.309-46_309-31delinsACATCTGGCCAGGTCC
ENST00000565302.5:n.1911_1926delinsGGACCTGGCCAGATGT (JMJD8)
ENST00000565677.5:c.309-46_309-31delinsACATCTGGCCAGGTCC (STUB1) ENSP00000457228.1:n.309-46_309-31delinsACATCTGGCCAGGTCC
ENST00000566181.2:n.294-46_294-31delinsACATCTGGCCAGGTCC (STUB1)
ENST00000566408.5:c.242-46_242-31delinsACATCTGGCCAGGTCC (STUB1)
ENST00000567120.5:n.2114_2129delinsGGACCTGGCCAGATGT (JMJD8)
ENST00000567173.5:c.468-46_468-31delinsACATCTGGCCAGGTCC (STUB1) ENSP00000456591.1:n.468-46_468-31delinsACATCTGGCCAGGTCC
ENST00000568689.5:n.1935_1950delinsGGACCTGGCCAGATGT (JMJD8)
ENST00000569248.5:n.1099-46_1099-31delinsACATCTGGCCAGGTCC (STUB1)
ENST00000609261.5:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) ENSP00000477481.1:n.*1032_*1047delinsGGACCTGGCCAGATGT
ENST00000620831.4:c.-50+38444_-50+38459delinsACATCTGGCCAGGTCC (MSLN) ENSP00000482893.1:n.-50+38444_-50+38459delinsACATCTGGCCAGGTCC...
NM_001005920.2:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) NP_001005920.2:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_001293197.1:c.309-46_309-31delinsACATCTGGCCAGGTCC (STUB1) NP_001280126.1:n.309-46_309-31delinsACATCTGGCCAGGTCC
NM_005861.3:c.525-46_525-31delinsACATCTGGCCAGGTCC (STUB1) NP_005852.2:n.525-46_525-31delinsACATCTGGCCAGGTCC
XM_005255295.3:c.*1066_*1081delinsGGACCTGGCCAGATGT (JMJD8) XP_005255352.1:n.*1066_*1081delinsGGACCTGGCCAGATGT
XM_005255297.3:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) XP_005255354.1:n.*1032_*1047delinsGGACCTGGCCAGATGT
XM_011522474.1:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) XP_011520776.1:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_001005920.3:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) NP_001005920.3:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_001323918.2:c.*1066_*1081delinsGGACCTGGCCAGATGT (JMJD8) NP_001310847.2:n.*1066_*1081delinsGGACCTGGCCAGATGT
NM_001323919.2:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) NP_001310848.2:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_001323920.2:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) NP_001310849.2:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_001323922.2:c.*1066_*1081delinsGGACCTGGCCAGATGT (JMJD8) NP_001310851.2:n.*1066_*1081delinsGGACCTGGCCAGATGT
NR_136650.2:n.1925_1940delinsGGACCTGGCCAGATGT (JMJD8)
NR_136651.2:n.1930_1945delinsGGACCTGGCCAGATGT (JMJD8)
NR_136652.2:n.1840_1855delinsGGACCTGGCCAGATGT (JMJD8)
NM_001005920.4:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) MANE Select NP_001005920.3:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_005861.4:c.525-46_525-31delinsACATCTGGCCAGGTCC (STUB1) MANE Select NP_005852.2:n.525-46_525-31delinsACATCTGGCCAGGTCC
NM_001293197.2:c.309-46_309-31delinsACATCTGGCCAGGTCC (STUB1) NP_001280126.1:n.309-46_309-31delinsACATCTGGCCAGGTCC
NM_001323918.3:c.*1066_*1081delinsGGACCTGGCCAGATGT (JMJD8) NP_001310847.2:n.*1066_*1081delinsGGACCTGGCCAGATGT
NM_001323919.3:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) NP_001310848.2:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_001323920.3:c.*1032_*1047delinsGGACCTGGCCAGATGT (JMJD8) NP_001310849.2:n.*1032_*1047delinsGGACCTGGCCAGATGT
NM_001323922.3:c.*1066_*1081delinsGGACCTGGCCAGATGT (JMJD8) NP_001310851.2:n.*1066_*1081delinsGGACCTGGCCAGATGT
NR_136650.3:n.1925_1940delinsGGACCTGGCCAGATGT (JMJD8)
NR_136651.3:n.1930_1945delinsGGACCTGGCCAGATGT (JMJD8)
NR_136652.3:n.1840_1855delinsGGACCTGGCCAGATGT (JMJD8)