Canonical Allele Identifier: CA7786816

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.682289del , CM000678.2:g.682289del GRCh38
NC_000016.9:g.732289del , CM000678.1:g.732289del GRCh37
NC_000016.8:g.672290del NCBI36
NG_034141.1:g.7179del

Transcript Alleles

HGVS Amino-acid Change
NM_001005920.4:c.*506del (JMJD8) MANE Select NP_001005920.3:n.*506del
NM_005861.4:c.786+8del (STUB1) MANE Select NP_005852.2:n.786+8del
ENST00000219548.9:c.786+8del (STUB1) MANE Select ENSP00000219548.4:n.786+8del
ENST00000609261.6:c.*506del (JMJD8) MANE Select ENSP00000477481.1:n.*506del
NM_001005920.2:c.*506del (JMJD8) NP_001005920.2:n.*506del
NM_001005920.3:c.*506del (JMJD8) NP_001005920.3:n.*506del
NM_001293197.1:c.570+8del (STUB1) NP_001280126.1:n.570+8del
NM_001293197.2:c.570+8del (STUB1) NP_001280126.1:n.570+8del
NM_001323918.2:c.*540del (JMJD8) NP_001310847.2:n.*540del
NM_001323918.3:c.*540del (JMJD8) NP_001310847.2:n.*540del
NM_001323919.2:c.*506del (JMJD8) NP_001310848.2:n.*506del
NM_001323919.3:c.*506del (JMJD8) NP_001310848.2:n.*506del
NM_001323920.2:c.*506del (JMJD8) NP_001310849.2:n.*506del
NM_001323920.3:c.*506del (JMJD8) NP_001310849.2:n.*506del
NM_001323922.2:c.*540del (JMJD8) NP_001310851.2:n.*540del
NM_001323922.3:c.*540del (JMJD8) NP_001310851.2:n.*540del
NM_005861.3:c.786+8del (STUB1) NP_005852.2:n.786+8del
NR_136650.2:n.1399del (JMJD8)
NR_136650.3:n.1399del (JMJD8)
NR_136651.2:n.1404del (JMJD8)
NR_136651.3:n.1404del (JMJD8)
NR_136652.2:n.1314del (JMJD8)
NR_136652.3:n.1314del (JMJD8)
ENST00000219548.8:c.786+8del (STUB1) ENSP00000219548.4:n.786+8del
ENST00000412368.6:c.*506del (JMJD8) ENSP00000399475.2:n.*506del
ENST00000564316.1:c.346+8del (STUB1)
ENST00000564370.5:c.570+8del (STUB1) ENSP00000456875.1:n.570+8del
ENST00000565302.5:n.1385del (JMJD8)
ENST00000565677.5:c.570+8del (STUB1) ENSP00000457228.1:n.570+8del
ENST00000566408.5:c.511del (STUB1)
ENST00000567120.5:n.1588del (JMJD8)
ENST00000568313.1:n.741del (JMJD8)
ENST00000568689.5:n.1409del (JMJD8)
ENST00000569248.5:n.1499+8del (STUB1)
ENST00000609261.5:c.*506del (JMJD8) ENSP00000477481.1:n.*506del
ENST00000620831.4:c.-50+38986del (MSLN) ENSP00000482893.1:n.-50+38986del
XM_005255295.3:c.*540del (JMJD8) XP_005255352.1:n.*540del
XM_005255297.3:c.*506del (JMJD8) XP_005255354.1:n.*506del
XM_011522474.1:c.*506del (JMJD8) XP_011520776.1:n.*506del