Canonical Allele Identifier: CA260992118
Community Standard Title: NM_001160148.2(DDHD1):c.1141+166_1141+167del
Gene: DDHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53093149_53093150del , CM000676.2:g.53093149_53093150del GRCh38
NC_000014.8:g.53559867_53559868del , CM000676.1:g.53559867_53559868del GRCh37
NC_000014.7:g.52629617_52629618del NCBI36
NG_042832.1:g.65179_65180del

Transcript Alleles

HGVS Amino-acid Change
NM_001160148.2:c.1141+166_1141+167del MANE Select NP_001153620.1:n.1141+166_1141+167del
ENST00000673822.2:c.1141+166_1141+167del MANE Select ENSP00000500986.2:n.1141+166_1141+167del
NM_001160147.1:c.1162+166_1162+167del NP_001153619.1:n.1162+166_1162+167del
NM_001160147.2:c.1162+166_1162+167del NP_001153619.1:n.1162+166_1162+167del
NM_001160148.1:c.1141+166_1141+167del NP_001153620.1:n.1141+166_1141+167del
NM_030637.2:c.1141+166_1141+167del NP_085140.2:n.1141+166_1141+167del
NM_030637.3:c.1141+166_1141+167del NP_085140.2:n.1141+166_1141+167del
ENST00000323669.10:c.550+166_550+167del ENSP00000327104.6:n.550+166_550+167del
ENST00000323669.9:c.1141+166_1141+167del ENSP00000327104.5:n.1141+166_1141+167del
ENST00000357758.3:c.1141+166_1141+167del ENSP00000350401.3:n.1141+166_1141+167del
ENST00000395606.5:c.1162+166_1162+167del ENSP00000378970.1:n.1162+166_1162+167del
ENST00000553406.1:n.536+166_536+167del
ENST00000556027.5:n.515_516del
ENST00000612692.4:c.754+166_754+167del ENSP00000483405.1:n.754+166_754+167del
ENST00000673827.1:n.614+166_614+167del
ENST00000673930.1:c.679+166_679+167del ENSP00000501087.1:n.679+166_679+167del
ENST00000674014.1:c.549+166_549+167del
ENST00000674152.1:c.174+10533_174+10534del
XM_005268102.1:c.1243+166_1243+167del XP_005268159.1:n.1243+166_1243+167del
XM_005268102.3:c.1243+166_1243+167del XP_005268159.1:n.1243+166_1243+167del
XM_005268103.1:c.1162+166_1162+167del XP_005268160.1:n.1162+166_1162+167del
XM_005268103.3:c.1162+166_1162+167del XP_005268160.1:n.1162+166_1162+167del
XM_005268105.1:c.1013-1218_1013-1217del XP_005268162.1:n.1013-1218_1013-1217del
XM_005268105.3:c.1013-1218_1013-1217del XP_005268162.1:n.1013-1218_1013-1217del
XM_011537188.1:c.1264+166_1264+167del XP_011535490.1:n.1264+166_1264+167del
XM_011537188.3:c.1264+166_1264+167del XP_011535490.1:n.1264+166_1264+167del
XM_011537189.1:c.1264+166_1264+167del XP_011535491.1:n.1264+166_1264+167del
XM_011537189.3:c.1264+166_1264+167del XP_011535491.1:n.1264+166_1264+167del
XM_017021668.2:c.1243+166_1243+167del XP_016877157.1:n.1243+166_1243+167del
XM_017021669.2:c.1013-1218_1013-1217del XP_016877158.1:n.1013-1218_1013-1217del