Canonical Allele Identifier: CA7190907
Gene: DDHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53046760_53046761del , CM000676.2:g.53046760_53046761del GRCh38
NC_000014.8:g.53513478_53513479del , CM000676.1:g.53513478_53513479del GRCh37
NC_000014.7:g.52583228_52583229del NCBI36
NG_042832.1:g.111568_111569del

Transcript Alleles

HGVS Amino-acid Change
NM_001160148.2:c.*7_*8del MANE Select NP_001153620.1:n.*7_*8del
ENST00000673822.2:c.*7_*8del MANE Select ENSP00000500986.2:n.*7_*8del
NM_001160147.1:c.*7_*8del NP_001153619.1:n.*7_*8del
NM_001160147.2:c.*7_*8del NP_001153619.1:n.*7_*8del
NM_001160148.1:c.*7_*8del NP_001153620.1:n.*7_*8del
NM_030637.2:c.*7_*8del NP_085140.2:n.*7_*8del
NM_030637.3:c.*7_*8del NP_085140.2:n.*7_*8del
ENST00000323669.10:c.2035_2036del ENSP00000327104.6:n.2035_2036del
ENST00000323669.9:c.2710_2711del ENSP00000327104.5:n.2710_2711del
ENST00000357758.3:c.*7_*8del ENSP00000350401.3:n.*7_*8del
ENST00000395606.5:c.*7_*8del ENSP00000378970.1:n.*7_*8del
ENST00000556027.5:n.3217_3218del
ENST00000612692.4:c.2323_2324del ENSP00000483405.1:n.2323_2324del
ENST00000673827.1:n.2302_2303del
ENST00000673930.1:c.2014_2015del ENSP00000501087.1:n.2014_2015del
ENST00000674014.1:c.1970_1971del
XM_005268102.1:c.*7_*8del XP_005268159.1:n.*7_*8del
XM_005268102.3:c.*7_*8del XP_005268159.1:n.*7_*8del
XM_005268103.1:c.*7_*8del XP_005268160.1:n.*7_*8del
XM_005268103.3:c.*7_*8del XP_005268160.1:n.*7_*8del
XM_005268105.1:c.*7_*8del XP_005268162.1:n.*7_*8del
XM_005268105.3:c.*7_*8del XP_005268162.1:n.*7_*8del
XM_011537188.1:c.*7_*8del XP_011535490.1:n.*7_*8del
XM_011537188.3:c.*7_*8del XP_011535490.1:n.*7_*8del
XM_011537189.1:c.*7_*8del XP_011535491.1:n.*7_*8del
XM_011537189.3:c.*7_*8del XP_011535491.1:n.*7_*8del
XM_017021668.2:c.*7_*8del XP_016877157.1:n.*7_*8del
XM_017021669.2:c.*7_*8del XP_016877158.1:n.*7_*8del