Canonical Allele Identifier: CA2710394127
Gene: DIAPH1 HGNC NCBI

Linked Data

dbSNP Id: rs2154596287

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573789_141573803del , CM000667.2:g.141573789_141573803del GRCh38
NC_000005.9:g.140953356_140953370del , CM000667.1:g.140953356_140953370del GRCh37
NC_000005.8:g.140933540_140933554del NCBI36
NG_011594.1:g.50253_50267del
NG_011594.2:g.50253_50267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2047_2061del MANE Select ENSP00000373706.4:p.Gly683_Ile687del
ENST00000647433.1:c.2047_2061del ENSP00000494675.1:p.Gly683_Ile687del
ENST00000253811.10:c.1915_1929del ENSP00000253811.7:p.Gly639_Ile643del
ENST00000389054.7:c.2047_2061del ENSP00000373706.4:p.Gly683_Ile687del
ENST00000389057.9:c.2020_2034del ENSP00000373709.6:p.Gly674_Ile678del
ENST00000398557.8:c.2047_2061del ENSP00000381565.5:p.Gly683_Ile687del
ENST00000518047.5:c.2020_2034del ENSP00000428268.2:p.Gly674_Ile678del
NM_001079812.2:c.2020_2034del NP_001073280.1:p.Gly674_Ile678del
NM_001314007.1:c.2047_2061del NP_001300936.1:p.Gly683_Ile687del
NM_005219.4:c.2047_2061del NP_005210.3:p.Gly683_Ile687del
XM_011537572.1:c.2011_2025del XP_011535874.1:p.Gly671_Ile675del
XM_011537573.1:c.1981_1995del XP_011535875.1:p.Gly661_Ile665del
XM_024454384.1:c.2047_2061del XP_024310152.1:p.Gly683_Ile687del
XM_024454385.1:c.2020_2034del XP_024310153.1:p.Gly674_Ile678del
XM_024454386.1:c.2011_2025del XP_024310154.1:p.Gly671_Ile675del
XM_024454387.1:c.1981_1995del XP_024310155.1:p.Gly661_Ile665del
NM_005219.5:c.2047_2061del MANE Select NP_005210.3:p.Gly683_Ile687del
NM_001079812.3:c.2020_2034del NP_001073280.1:p.Gly674_Ile678del
NM_001314007.2:c.2047_2061del NP_001300936.1:p.Gly683_Ile687del