Canonical Allele Identifier: CA233302

Gene: OFD1

Linked Data

• ClinVar Variation Id: 41065
• ClinVar RCV Id: RCV000146976 ; RCV002504861 ; RCV003493420
• dbSNP Id: rs312262868
• gnomAD v4: X-13755207-CTCAA-C
• COSMIC: COSM4709345
• MyVariant Identifiers: chrX:g.13773333_13773336del (hg19) ; chrX:g.13755214_13755217del (hg38)
• PubMed: PMID:20301367

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13755214_13755217del , CM000685.2:g.13755214_13755217del	GRCh38
NC_000023.10:g.13773333_13773336del , CM000685.1:g.13773333_13773336del	GRCh37
NC_000023.9:g.13683254_13683257del	NCBI36
NG_008872.1:g.25502_25505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*886_*889del	ENSP00000369941.2:n.*886_*889del
ENST00000398395.8:c.*766_*769del	ENSP00000381432.5:n.*766_*769del
ENST00000464463.6:n.1356_1359del
ENST00000490265.6:n.1722_1725del
ENST00000682237.1:c.*753_*756del	ENSP00000507121.1:n.*753_*756del
ENST00000682562.1:c.*2595_*2598del	ENSP00000507874.1:n.*2595_*2598del
ENST00000682953.1:c.*1920_*1923del	ENSP00000507878.1:n.*1920_*1923del
ENST00000683055.1:c.831-1364_831-1361del	ENSP00000508191.1:n.831-1364_831-1361del
ENST00000683284.1:c.*1424_*1427del	ENSP00000507837.1:n.*1424_*1427del
ENST00000683427.1:c.936-1364_936-1361del	ENSP00000507290.1:n.936-1364_936-1361del
ENST00000683454.1:n.1207_1210del
ENST00000683637.1:n.2302_2305del
ENST00000683655.1:c.*1407_*1410del	ENSP00000506770.1:n.*1407_*1410del
ENST00000683713.1:c.*1424_*1427del	ENSP00000507797.1:n.*1424_*1427del
ENST00000684577.1:c.*886_*889del	ENSP00000507871.1:n.*886_*889del
ENST00000340096.11:c.1193_1196del MANE Select	ENSP00000344314.6:p.Gln398LeufsTer2
ENST00000340096.10:c.1193_1196del	ENSP00000344314.6:p.Gln398LeufsTer2
ENST00000380550.6:c.1073_1076del	ENSP00000369923.3:p.Gln358LeufsTer2
ENST00000380567.5:c.773_776del	ENSP00000369941.1:p.Gln258LeufsTer2
ENST00000398395.7:c.662_665del	ENSP00000381432.4:p.Gln221LeufsTer2
ENST00000490265.5:n.2168_2171del
NM_003611.2:c.1193_1196del	NP_003602.1:p.Gln398LeufsTer2
XM_005274599.2:c.1214_1217del	XP_005274656.1:p.Gln405LeufsTer2
XM_005274602.2:c.1214_1217del	XP_005274659.1:p.Gln405LeufsTer2
XM_005274603.2:c.1094_1097del	XP_005274660.1:p.Gln365LeufsTer2
XM_005274604.2:c.1073_1076del	XP_005274661.1:p.Gln358LeufsTer2
XM_005274606.2:c.1049_1052del	XP_005274663.1:p.Gln350LeufsTer2
XM_005274607.3:c.773_776del	XP_005274664.1:p.Gln258LeufsTer2
XM_011545591.1:c.1214_1217del	XP_011543893.1:p.Gln405LeufsTer2
XM_011545592.1:c.1001_1004del	XP_011543894.1:p.Gln334LeufsTer2
XM_011545593.1:c.1214_1217del	XP_011543895.1:p.Gln405LeufsTer2
XM_011545594.1:c.872_875del	XP_011543896.1:p.Gln291LeufsTer2
XM_011545595.1:c.872_875del	XP_011543897.1:p.Gln291LeufsTer2
XM_011545596.1:c.1214_1217del	XP_011543898.1:p.Gln405LeufsTer2
XM_011545597.1:c.773_776del	XP_011543899.1:p.Gln258LeufsTer2
XM_011545598.1:c.-54-1364_-54-1361del	XP_011543900.1:n.-54-1364_-54-1361del
XR_247288.2:n.1553_1556del
NM_001330209.1:c.1073_1076del	NP_001317138.1:p.Gln358LeufsTer2
NM_001330210.1:c.773_776del	NP_001317139.1:p.Gln258LeufsTer2
XM_005274606.4:c.1049_1052del	XP_005274663.1:p.Gln350LeufsTer2
XM_011545592.3:c.1001_1004del	XP_011543894.1:p.Gln334LeufsTer2
XM_011545594.3:c.872_875del	XP_011543896.1:p.Gln291LeufsTer2
XM_011545597.2:c.773_776del	XP_011543899.1:p.Gln258LeufsTer2
XM_017029909.1:c.773_776del	XP_016885398.1:p.Gln258LeufsTer2
XM_017029911.1:c.251_254del	XP_016885400.1:p.Gln84LeufsTer2
XM_024452468.1:c.-83_-80del	XP_024308236.1:n.-83_-80del
XM_024452469.1:c.-83_-80del	XP_024308237.1:n.-83_-80del
XM_024452470.1:c.-83_-80del	XP_024308238.1:n.-83_-80del
XM_024452471.1:c.-83_-80del	XP_024308239.1:n.-83_-80del
NM_003611.3:c.1193_1196del MANE Select	NP_003602.1:p.Gln398LeufsTer2
NM_001330209.2:c.1073_1076del	NP_001317138.1:p.Gln358LeufsTer2
NM_001330210.2:c.773_776del	NP_001317139.1:p.Gln258LeufsTer2