Canonical Allele Identifier: CA255925

Gene: OFD1

Linked Data

• ClinVar Variation Id: 11544
• ClinVar RCV Id: RCV000012300
• dbSNP Id: rs312262895
• MyVariant Identifiers: chrX:g.13786256_13786262del (hg19) ; chrX:g.13768137_13768143del (hg38)
• PubMed: PMID:19800048

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13768140_13768146del , CM000685.2:g.13768140_13768146del	GRCh38
NC_000023.10:g.13786259_13786265del , CM000685.1:g.13786259_13786265del	GRCh37
NC_000023.9:g.13696180_13696186del	NCBI36
NG_008872.1:g.38428_38434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*2537_*2543del	ENSP00000369941.2:n.*2537_*2543del
ENST00000398395.8:c.*2305_*2311del	ENSP00000381432.5:n.*2305_*2311del
ENST00000464463.6:n.4673_4679del
ENST00000490265.6:n.3373_3379del
ENST00000682237.1:c.*2404_*2410del	ENSP00000507121.1:n.*2404_*2410del
ENST00000682562.1:c.*4135_*4141del	ENSP00000507874.1:n.*4135_*4141del
ENST00000682953.1:c.*3460_*3466del	ENSP00000507878.1:n.*3460_*3466del
ENST00000683055.1:c.*4483_*4489del	ENSP00000508191.1:n.*4483_*4489del
ENST00000683284.1:c.*3075_*3081del	ENSP00000507837.1:n.*3075_*3081del
ENST00000683427.1:c.*2270_*2276del	ENSP00000507290.1:n.*2270_*2276del
ENST00000683454.1:n.2858_2864del
ENST00000683637.1:n.3953_3959del
ENST00000683655.1:c.*3058_*3064del	ENSP00000506770.1:n.*3058_*3064del
ENST00000683713.1:c.*3075_*3081del	ENSP00000507797.1:n.*3075_*3081del
ENST00000684577.1:c.*2430_*2436del	ENSP00000507871.1:n.*2430_*2436del
ENST00000340096.11:c.2844_2850del MANE Select	ENSP00000344314.6:p.Lys948AsnfsTer9
ENST00000340096.10:c.2844_2850del	ENSP00000344314.6:p.Lys948AsnfsTer9
ENST00000380550.6:c.2724_2730del	ENSP00000369923.3:p.Lys908AsnfsTer9
ENST00000380567.5:c.2424_2430del	ENSP00000369941.1:p.Lys808AsnfsTer9
ENST00000398395.7:c.*1184_*1190del	ENSP00000381432.4:n.*1184_*1190del
ENST00000464463.5:n.554_560del
ENST00000474705.1:n.236_242del
ENST00000490265.5:n.3819_3825del
NM_003611.2:c.2844_2850del	NP_003602.1:p.Lys948AsnfsTer9
XM_005274599.2:c.2865_2871del	XP_005274656.1:p.Lys955AsnfsTer9
XM_005274602.2:c.2754_2760del	XP_005274659.1:p.Lys918AsnfsTer9
XM_005274603.2:c.2745_2751del	XP_005274660.1:p.Lys915AsnfsTer9
XM_005274604.2:c.2724_2730del	XP_005274661.1:p.Lys908AsnfsTer9
XM_005274606.2:c.2700_2706del	XP_005274663.1:p.Lys900AsnfsTer9
XM_005274607.3:c.2424_2430del	XP_005274664.1:p.Lys808AsnfsTer9
XM_011545591.1:c.2865_2871del	XP_011543893.1:p.Lys955AsnfsTer9
XM_011545592.1:c.2652_2658del	XP_011543894.1:p.Lys884AsnfsTer9
XM_011545594.1:c.2523_2529del	XP_011543896.1:p.Lys841AsnfsTer9
XM_011545595.1:c.2523_2529del	XP_011543897.1:p.Lys841AsnfsTer9
XM_011545597.1:c.2313_2319del	XP_011543899.1:p.Lys771AsnfsTer9
XM_011545598.1:c.1569_1575del	XP_011543900.1:p.Lys523AsnfsTer9
XR_247288.2:n.3046_3052del
NM_001330209.1:c.2724_2730del	NP_001317138.1:p.Lys908AsnfsTer9
NM_001330210.1:c.2424_2430del	NP_001317139.1:p.Lys808AsnfsTer9
XM_005274606.4:c.2700_2706del	XP_005274663.1:p.Lys900AsnfsTer9
XM_011545592.3:c.2652_2658del	XP_011543894.1:p.Lys884AsnfsTer9
XM_011545594.3:c.2523_2529del	XP_011543896.1:p.Lys841AsnfsTer9
XM_011545597.2:c.2313_2319del	XP_011543899.1:p.Lys771AsnfsTer9
XM_017029909.1:c.2424_2430del	XP_016885398.1:p.Lys808AsnfsTer9
XM_017029911.1:c.1902_1908del	XP_016885400.1:p.Lys634AsnfsTer9
XM_024452468.1:c.1569_1575del	XP_024308236.1:p.Lys523AsnfsTer9
XM_024452469.1:c.1569_1575del	XP_024308237.1:p.Lys523AsnfsTer9
XM_024452470.1:c.1569_1575del	XP_024308238.1:p.Lys523AsnfsTer9
XM_024452471.1:c.1458_1464del	XP_024308239.1:p.Lys486AsnfsTer9
NM_003611.3:c.2844_2850del MANE Select	NP_003602.1:p.Lys948AsnfsTer9
NM_001330209.2:c.2724_2730del	NP_001317138.1:p.Lys908AsnfsTer9
NM_001330210.2:c.2424_2430del	NP_001317139.1:p.Lys808AsnfsTer9