Canonical Allele Identifier: CA2675691758
Gene: DIAPH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573900_141573935del , CM000667.2:g.141573900_141573935del GRCh38
NC_000005.9:g.140953467_140953502del , CM000667.1:g.140953467_140953502del GRCh37
NC_000005.8:g.140933651_140933686del NCBI36
NG_011594.1:g.50124_50159del
NG_011594.2:g.50124_50159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.1918_1953del MANE Select ENSP00000373706.4:p.Ser640_Ile651del
ENST00000647433.1:c.1918_1953del ENSP00000494675.1:p.Ser640_Ile651del
ENST00000253811.10:c.1786_1821del ENSP00000253811.7:p.Ser596_Ile607del
ENST00000389054.7:c.1918_1953del ENSP00000373706.4:p.Ser640_Ile651del
ENST00000389057.9:c.1891_1926del ENSP00000373709.6:p.Ser631_Ile642del
ENST00000398557.8:c.1918_1953del ENSP00000381565.5:p.Ser640_Ile651del
ENST00000518047.5:c.1891_1926del ENSP00000428268.2:p.Ser631_Ile642del
NM_001079812.2:c.1891_1926del NP_001073280.1:p.Ser631_Ile642del
NM_001314007.1:c.1918_1953del NP_001300936.1:p.Ser640_Ile651del
NM_005219.4:c.1918_1953del NP_005210.3:p.Ser640_Ile651del
XM_011537572.1:c.1882_1917del XP_011535874.1:p.Ser628_Ile639del
XM_011537573.1:c.1852_1887del XP_011535875.1:p.Ser618_Ile629del
XM_024454384.1:c.1918_1953del XP_024310152.1:p.Ser640_Ile651del
XM_024454385.1:c.1891_1926del XP_024310153.1:p.Ser631_Ile642del
XM_024454386.1:c.1882_1917del XP_024310154.1:p.Ser628_Ile639del
XM_024454387.1:c.1852_1887del XP_024310155.1:p.Ser618_Ile629del
NM_005219.5:c.1918_1953del MANE Select NP_005210.3:p.Ser640_Ile651del
NM_001079812.3:c.1891_1926del NP_001073280.1:p.Ser631_Ile642del
NM_001314007.2:c.1918_1953del NP_001300936.1:p.Ser640_Ile651del