Canonical Allele Identifier: CA645369802

Gene: OFD1

Linked Data

• ClinVar Variation Id: 430297
• ClinVar RCV Id: RCV000493480 ; RCV003152713
• dbSNP Id: rs1131691889
• MyVariant Identifiers: chrX:g.13764461_13764463del (hg19) ; chrX:g.13746342_13746344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13746342_13746344del , CM000685.2:g.13746342_13746344del	GRCh38
NC_000023.10:g.13764461_13764463del , CM000685.1:g.13764461_13764463del	GRCh37
NC_000023.9:g.13674382_13674384del	NCBI36
NG_008872.1:g.16630_16632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*234_*236del	ENSP00000369941.2:n.*234_*236del
ENST00000398395.8:c.*234_*236del	ENSP00000381432.5:n.*234_*236del
ENST00000464463.6:n.824_826del
ENST00000490265.6:n.403_405del
ENST00000682237.1:c.541_543del	ENSP00000507121.1:p.Asp181del
ENST00000682562.1:c.*234_*236del	ENSP00000507874.1:n.*234_*236del
ENST00000682953.1:c.*604_*606del	ENSP00000507878.1:n.*604_*606del
ENST00000683055.1:c.436_438del	ENSP00000508191.1:p.Asp146del
ENST00000683284.1:c.*108_*110del	ENSP00000507837.1:n.*108_*110del
ENST00000683427.1:c.541_543del	ENSP00000507290.1:p.Asp181del
ENST00000683454.1:n.555_557del
ENST00000683637.1:n.986_988del
ENST00000683655.1:c.*91_*93del	ENSP00000506770.1:n.*91_*93del
ENST00000683713.1:c.*108_*110del	ENSP00000507797.1:n.*108_*110del
ENST00000684577.1:c.*234_*236del	ENSP00000507871.1:n.*234_*236del
ENST00000340096.11:c.541_543del MANE Select	ENSP00000344314.6:p.Asp181del
ENST00000340096.10:c.541_543del	ENSP00000344314.6:p.Asp181del
ENST00000380550.6:c.541_543del	ENSP00000369923.3:p.Asp181del
ENST00000380567.5:c.121_123del	ENSP00000369941.1:p.Asp41del
ENST00000398395.7:c.130_132del	ENSP00000381432.4:p.Asp44del
ENST00000490265.5:n.852_854del
NM_003611.2:c.541_543del	NP_003602.1:p.Asp181del
XM_005274599.2:c.562_564del	XP_005274656.1:p.Asp188del
XM_005274602.2:c.562_564del	XP_005274659.1:p.Asp188del
XM_005274603.2:c.562_564del	XP_005274660.1:p.Asp188del
XM_005274604.2:c.541_543del	XP_005274661.1:p.Asp181del
XM_005274606.2:c.397_399del	XP_005274663.1:p.Asp133del
XM_005274607.3:c.121_123del	XP_005274664.1:p.Asp41del
XM_011545591.1:c.562_564del	XP_011543893.1:p.Asp188del
XM_011545592.1:c.349_351del	XP_011543894.1:p.Asp117del
XM_011545593.1:c.562_564del	XP_011543895.1:p.Asp188del
XM_011545594.1:c.220_222del	XP_011543896.1:p.Asp74del
XM_011545595.1:c.220_222del	XP_011543897.1:p.Asp74del
XM_011545596.1:c.562_564del	XP_011543898.1:p.Asp188del
XM_011545597.1:c.121_123del	XP_011543899.1:p.Asp41del
XR_247288.2:n.901_903del
NM_001330209.1:c.541_543del	NP_001317138.1:p.Asp181del
NM_001330210.1:c.121_123del	NP_001317139.1:p.Asp41del
XM_005274606.4:c.397_399del	XP_005274663.1:p.Asp133del
XM_011545592.3:c.349_351del	XP_011543894.1:p.Asp117del
XM_011545594.3:c.220_222del	XP_011543896.1:p.Asp74del
XM_011545597.2:c.121_123del	XP_011543899.1:p.Asp41del
XM_017029909.1:c.121_123del	XP_016885398.1:p.Asp41del
XM_024452468.1:c.-1399_-1397del	XP_024308236.1:n.-1399_-1397del
XM_024452469.1:c.-1399_-1397del	XP_024308237.1:n.-1399_-1397del
XM_024452470.1:c.-1399_-1397del	XP_024308238.1:n.-1399_-1397del
XM_024452471.1:c.-1399_-1397del	XP_024308239.1:n.-1399_-1397del
NM_003611.3:c.541_543del MANE Select	NP_003602.1:p.Asp181del
NM_001330209.2:c.541_543del	NP_001317138.1:p.Asp181del
NM_001330210.2:c.121_123del	NP_001317139.1:p.Asp41del