Canonical Allele Identifier: CA2675691736
Gene: DIAPH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573771del , CM000667.2:g.141573771del GRCh38
NC_000005.9:g.140953338del , CM000667.1:g.140953338del GRCh37
NC_000005.8:g.140933522del NCBI36
NG_011594.1:g.50287del
NG_011594.2:g.50287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2081del MANE Select ENSP00000373706.4:p.Leu694CysfsTer?
ENST00000647433.1:c.2081del ENSP00000494675.1:p.Leu694CysfsTer?
ENST00000253811.10:c.1949del ENSP00000253811.7:p.Leu650CysfsTer?
ENST00000389054.7:c.2081del ENSP00000373706.4:p.Leu694CysfsTer?
ENST00000389057.9:c.2054del ENSP00000373709.6:p.Leu685CysfsTer?
ENST00000398557.8:c.2081del ENSP00000381565.5:p.Leu694CysfsTer?
ENST00000518047.5:c.2054del ENSP00000428268.2:p.Leu685CysfsTer?
NM_001079812.2:c.2054del NP_001073280.1:p.Leu685CysfsTer?
NM_001314007.1:c.2081del NP_001300936.1:p.Leu694CysfsTer?
NM_005219.4:c.2081del NP_005210.3:p.Leu694CysfsTer?
XM_011537572.1:c.2045del XP_011535874.1:p.Leu682CysfsTer?
XM_011537573.1:c.2015del XP_011535875.1:p.Leu672CysfsTer?
XM_024454384.1:c.2081del XP_024310152.1:p.Leu694CysfsTer?
XM_024454385.1:c.2054del XP_024310153.1:p.Leu685CysfsTer?
XM_024454386.1:c.2045del XP_024310154.1:p.Leu682CysfsTer?
XM_024454387.1:c.2015del XP_024310155.1:p.Leu672CysfsTer?
NM_005219.5:c.2081del MANE Select NP_005210.3:p.Leu694CysfsTer?
NM_001079812.3:c.2054del NP_001073280.1:p.Leu685CysfsTer?
NM_001314007.2:c.2081del NP_001300936.1:p.Leu694CysfsTer?