Canonical Allele Identifier: CA1082278659
Gene: DIAPH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573748_141573789del , CM000667.2:g.141573748_141573789del GRCh38
NC_000005.9:g.140953315_140953356del , CM000667.1:g.140953315_140953356del GRCh37
NC_000005.8:g.140933499_140933540del NCBI36
NG_011594.1:g.50276_50317del
NG_011594.2:g.50276_50317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2070_2111del MANE Select ENSP00000373706.4:p.Pro691_Pro704del
ENST00000647433.1:c.2070_2111del ENSP00000494675.1:p.Pro691_Pro704del
ENST00000253811.10:c.1938_1979del ENSP00000253811.7:p.Pro647_Pro660del
ENST00000389054.7:c.2070_2111del ENSP00000373706.4:p.Pro691_Pro704del
ENST00000389057.9:c.2043_2084del ENSP00000373709.6:p.Pro682_Pro695del
ENST00000398557.8:c.2070_2111del ENSP00000381565.5:p.Pro691_Pro704del
ENST00000518047.5:c.2043_2084del ENSP00000428268.2:p.Pro682_Pro695del
NM_001079812.2:c.2043_2084del NP_001073280.1:p.Pro682_Pro695del
NM_001314007.1:c.2070_2111del NP_001300936.1:p.Pro691_Pro704del
NM_005219.4:c.2070_2111del NP_005210.3:p.Pro691_Pro704del
XM_011537572.1:c.2034_2075del XP_011535874.1:p.Pro679_Pro692del
XM_011537573.1:c.2004_2045del XP_011535875.1:p.Pro669_Pro682del
XM_024454384.1:c.2070_2111del XP_024310152.1:p.Pro691_Pro704del
XM_024454385.1:c.2043_2084del XP_024310153.1:p.Pro682_Pro695del
XM_024454386.1:c.2034_2075del XP_024310154.1:p.Pro679_Pro692del
XM_024454387.1:c.2004_2045del XP_024310155.1:p.Pro669_Pro682del
NM_005219.5:c.2070_2111del MANE Select NP_005210.3:p.Pro691_Pro704del
NM_001079812.3:c.2043_2084del NP_001073280.1:p.Pro682_Pro695del
NM_001314007.2:c.2070_2111del NP_001300936.1:p.Pro691_Pro704del