Canonical Allele Identifier: CA344036

Gene: OFD1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13746835del , CM000685.2:g.13746835del	GRCh38
NC_000023.10:g.13764954del , CM000685.1:g.13764954del	GRCh37
NC_000023.9:g.13674875del	NCBI36
NG_008872.1:g.17123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*403del	ENSP00000369941.2:n.*403del
ENST00000398395.8:c.*403del	ENSP00000381432.5:n.*403del
ENST00000464463.6:n.993del
ENST00000490265.6:n.572del
ENST00000682237.1:c.710del	ENSP00000507121.1:p.Lys237SerfsTer6
ENST00000682562.1:c.*403del	ENSP00000507874.1:n.*403del
ENST00000682953.1:c.*773del	ENSP00000507878.1:n.*773del
ENST00000683055.1:c.605del	ENSP00000508191.1:p.Lys202SerfsTer6
ENST00000683065.1:n.119del
ENST00000683284.1:c.*277del	ENSP00000507837.1:n.*277del
ENST00000683427.1:c.710del	ENSP00000507290.1:p.Lys237SerfsTer6
ENST00000683454.1:n.724del
ENST00000683637.1:n.1155del
ENST00000683655.1:c.*260del	ENSP00000506770.1:n.*260del
ENST00000683713.1:c.*277del	ENSP00000507797.1:n.*277del
ENST00000684577.1:c.*403del	ENSP00000507871.1:n.*403del
ENST00000340096.11:c.710del MANE Select	ENSP00000344314.6:p.Lys237SerfsTer6
ENST00000340096.10:c.710del	ENSP00000344314.6:p.Lys237SerfsTer6
ENST00000380550.6:c.710del	ENSP00000369923.3:p.Lys237SerfsTer6
ENST00000380567.5:c.290del	ENSP00000369941.1:p.Lys97SerfsTer6
ENST00000398395.7:c.299del	ENSP00000381432.4:p.Lys100SerfsTer6
ENST00000490265.5:n.1021del
NM_003611.2:c.710del	NP_003602.1:p.Lys237SerfsTer6
XM_005274599.2:c.731del	XP_005274656.1:p.Lys244SerfsTer6
XM_005274602.2:c.731del	XP_005274659.1:p.Lys244SerfsTer6
XM_005274603.2:c.731del	XP_005274660.1:p.Lys244SerfsTer6
XM_005274604.2:c.710del	XP_005274661.1:p.Lys237SerfsTer6
XM_005274606.2:c.566del	XP_005274663.1:p.Lys189SerfsTer6
XM_005274607.3:c.290del	XP_005274664.1:p.Lys97SerfsTer6
XM_011545591.1:c.731del	XP_011543893.1:p.Lys244SerfsTer6
XM_011545592.1:c.518del	XP_011543894.1:p.Lys173SerfsTer6
XM_011545593.1:c.731del	XP_011543895.1:p.Lys244SerfsTer6
XM_011545594.1:c.389del	XP_011543896.1:p.Lys130SerfsTer6
XM_011545595.1:c.389del	XP_011543897.1:p.Lys130SerfsTer6
XM_011545596.1:c.731del	XP_011543898.1:p.Lys244SerfsTer6
XM_011545597.1:c.290del	XP_011543899.1:p.Lys97SerfsTer6
XR_247288.2:n.1070del
NM_001330209.1:c.710del	NP_001317138.1:p.Lys237SerfsTer6
NM_001330210.1:c.290del	NP_001317139.1:p.Lys97SerfsTer6
XM_005274606.4:c.566del	XP_005274663.1:p.Lys189SerfsTer6
XM_011545592.3:c.518del	XP_011543894.1:p.Lys173SerfsTer6
XM_011545594.3:c.389del	XP_011543896.1:p.Lys130SerfsTer6
XM_011545597.2:c.290del	XP_011543899.1:p.Lys97SerfsTer6
XM_017029909.1:c.290del	XP_016885398.1:p.Lys97SerfsTer6
XM_024452468.1:c.-1230del	XP_024308236.1:n.-1230del
XM_024452469.1:c.-1230del	XP_024308237.1:n.-1230del
XM_024452470.1:c.-1230del	XP_024308238.1:n.-1230del
XM_024452471.1:c.-1230del	XP_024308239.1:n.-1230del
NM_003611.3:c.710del MANE Select	NP_003602.1:p.Lys237SerfsTer6
NM_001330209.2:c.710del	NP_001317138.1:p.Lys237SerfsTer6
NM_001330210.2:c.290del	NP_001317139.1:p.Lys97SerfsTer6