Canonical Allele Identifier: CA2578432700
Gene: DIAPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573993_141573995del , CM000667.2:g.141573993_141573995del GRCh38
NC_000005.9:g.140953560_140953562del , CM000667.1:g.140953560_140953562del GRCh37
NC_000005.8:g.140933744_140933746del NCBI36
NG_011594.1:g.50064_50066del
NG_011594.2:g.50064_50066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.1858_1860del MANE Select ENSP00000373706.4:p.Pro620del
ENST00000647433.1:c.1858_1860del ENSP00000494675.1:p.Pro620del
ENST00000253811.10:c.1726_1728del ENSP00000253811.7:p.Pro576del
ENST00000389054.7:c.1858_1860del ENSP00000373706.4:p.Pro620del
ENST00000389057.9:c.1831_1833del ENSP00000373709.6:p.Pro611del
ENST00000398557.8:c.1858_1860del ENSP00000381565.5:p.Pro620del
ENST00000518047.5:c.1831_1833del ENSP00000428268.2:p.Pro611del
NM_001079812.2:c.1831_1833del NP_001073280.1:p.Pro611del
NM_001314007.1:c.1858_1860del NP_001300936.1:p.Pro620del
NM_005219.4:c.1858_1860del NP_005210.3:p.Pro620del
XM_011537572.1:c.1822_1824del XP_011535874.1:p.Pro608del
XM_011537573.1:c.1792_1794del XP_011535875.1:p.Pro598del
XM_024454384.1:c.1858_1860del XP_024310152.1:p.Pro620del
XM_024454385.1:c.1831_1833del XP_024310153.1:p.Pro611del
XM_024454386.1:c.1822_1824del XP_024310154.1:p.Pro608del
XM_024454387.1:c.1792_1794del XP_024310155.1:p.Pro598del
NM_005219.5:c.1858_1860del MANE Select NP_005210.3:p.Pro620del
NM_001079812.3:c.1831_1833del NP_001073280.1:p.Pro611del
NM_001314007.2:c.1858_1860del NP_001300936.1:p.Pro620del