Canonical Allele Identifier: CA7191131

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53061187_53061189del , CM000676.2:g.53061187_53061189del	GRCh38
NC_000014.8:g.53527905_53527907del , CM000676.1:g.53527905_53527907del	GRCh37
NC_000014.7:g.52597655_52597657del	NCBI36
NG_042832.1:g.97144_97146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323669.10:c.1192_1194del	ENSP00000327104.6:p.Glu398del
ENST00000673822.2:c.1783_1785del MANE Select	ENSP00000500986.2:p.Glu595del
ENST00000673827.1:n.1459_1461del
ENST00000673930.1:c.1321_1323del	ENSP00000501087.1:p.Glu441del
ENST00000674014.1:c.1127_1129del
ENST00000674152.1:c.561_563del
ENST00000323669.9:c.1783_1785del	ENSP00000327104.5:p.Glu595del
ENST00000357758.3:c.1783_1785del	ENSP00000350401.3:p.Glu595del
ENST00000395606.5:c.1804_1806del	ENSP00000378970.1:p.Glu602del
ENST00000555400.1:n.140_142del
ENST00000556027.5:n.2374_2376del
ENST00000612692.4:c.1396_1398del	ENSP00000483405.1:p.Glu466del
NM_001160147.1:c.1804_1806del	NP_001153619.1:p.Glu602del
NM_001160148.1:c.1783_1785del	NP_001153620.1:p.Glu595del
NM_030637.2:c.1783_1785del	NP_085140.2:p.Glu595del
XM_005268102.1:c.1885_1887del	XP_005268159.1:p.Glu629del
XM_005268103.1:c.1804_1806del	XP_005268160.1:p.Glu602del
XM_005268105.1:c.1654_1656del	XP_005268162.1:p.Glu552del
XM_011537188.1:c.1906_1908del	XP_011535490.1:p.Glu636del
XM_011537189.1:c.1906_1908del	XP_011535491.1:p.Glu636del
XM_005268102.3:c.1885_1887del	XP_005268159.1:p.Glu629del
XM_005268103.3:c.1804_1806del	XP_005268160.1:p.Glu602del
XM_005268105.3:c.1654_1656del	XP_005268162.1:p.Glu552del
XM_011537188.3:c.1906_1908del	XP_011535490.1:p.Glu636del
XM_011537189.3:c.1906_1908del	XP_011535491.1:p.Glu636del
XM_017021668.2:c.1885_1887del	XP_016877157.1:p.Glu629del
XM_017021669.2:c.1654_1656del	XP_016877158.1:p.Glu552del
NM_001160147.2:c.1804_1806del	NP_001153619.1:p.Glu602del
NM_001160148.2:c.1783_1785del MANE Select	NP_001153620.1:p.Glu595del
NM_030637.3:c.1783_1785del	NP_085140.2:p.Glu595del