Canonical Allele Identifier: CA658824645

Gene: OFD1

Linked Data

• ClinVar Variation Id: 561161
• ClinVar RCV Id: RCV000680173
• dbSNP Id: rs1569145145
• MyVariant Identifiers: chrX:g.13776516_13776517del (hg19) ; chrX:g.13758397_13758398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13758397_13758398del , CM000685.2:g.13758397_13758398del	GRCh38
NC_000023.10:g.13776516_13776517del , CM000685.1:g.13776516_13776517del	GRCh37
NC_000023.9:g.13686437_13686438del	NCBI36
NG_008872.1:g.28685_28686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*1296_*1297del	ENSP00000369941.2:n.*1296_*1297del
ENST00000398395.8:c.*1115+607_*1115+608del	ENSP00000381432.5:n.*1115+607_*1115+608del
ENST00000464463.6:n.1766_1767del
ENST00000490265.6:n.2132_2133del
ENST00000682237.1:c.*1163_*1164del	ENSP00000507121.1:n.*1163_*1164del
ENST00000682562.1:c.*3005_*3006del	ENSP00000507874.1:n.*3005_*3006del
ENST00000682953.1:c.*2330_*2331del	ENSP00000507878.1:n.*2330_*2331del
ENST00000683055.1:c.*918_*919del	ENSP00000508191.1:n.*918_*919del
ENST00000683284.1:c.*1834_*1835del	ENSP00000507837.1:n.*1834_*1835del
ENST00000683427.1:c.*311+607_*311+608del	ENSP00000507290.1:n.*311+607_*311+608del
ENST00000683454.1:n.1617_1618del
ENST00000683637.1:n.2712_2713del
ENST00000683655.1:c.*1817_*1818del	ENSP00000506770.1:n.*1817_*1818del
ENST00000683713.1:c.*1834_*1835del	ENSP00000507797.1:n.*1834_*1835del
ENST00000684577.1:c.*1300_*1301del	ENSP00000507871.1:n.*1300_*1301del
ENST00000340096.11:c.1603_1604del MANE Select	ENSP00000344314.6:p.Leu535AsnfsTer21
ENST00000340096.10:c.1603_1604del	ENSP00000344314.6:p.Leu535AsnfsTer21
ENST00000380550.6:c.1483_1484del	ENSP00000369923.3:p.Leu495AsnfsTer21
ENST00000380567.5:c.1183_1184del	ENSP00000369941.1:p.Leu395AsnfsTer21
ENST00000398395.7:c.1011+607_1011+608del	ENSP00000381432.4:n.1011+607_1011+608del
ENST00000490265.5:n.2578_2579del
NM_003611.2:c.1603_1604del	NP_003602.1:p.Leu535AsnfsTer21
XM_005274599.2:c.1624_1625del	XP_005274656.1:p.Leu542AsnfsTer21
XM_005274602.2:c.1624_1625del	XP_005274659.1:p.Leu542AsnfsTer21
XM_005274603.2:c.1504_1505del	XP_005274660.1:p.Leu502AsnfsTer21
XM_005274604.2:c.1483_1484del	XP_005274661.1:p.Leu495AsnfsTer21
XM_005274606.2:c.1459_1460del	XP_005274663.1:p.Leu487AsnfsTer21
XM_005274607.3:c.1183_1184del	XP_005274664.1:p.Leu395AsnfsTer21
XM_011545591.1:c.1624_1625del	XP_011543893.1:p.Leu542AsnfsTer21
XM_011545592.1:c.1411_1412del	XP_011543894.1:p.Leu471AsnfsTer21
XM_011545593.1:c.1624_1625del	XP_011543895.1:p.Leu542AsnfsTer21
XM_011545594.1:c.1282_1283del	XP_011543896.1:p.Leu428AsnfsTer21
XM_011545595.1:c.1282_1283del	XP_011543897.1:p.Leu428AsnfsTer21
XM_011545596.1:c.1624_1625del	XP_011543898.1:p.Leu542AsnfsTer21
XM_011545597.1:c.1183_1184del	XP_011543899.1:p.Leu395AsnfsTer21
XM_011545598.1:c.328_329del	XP_011543900.1:p.Leu110AsnfsTer21
XR_247288.2:n.1963_1964del
NM_001330209.1:c.1483_1484del	NP_001317138.1:p.Leu495AsnfsTer21
NM_001330210.1:c.1183_1184del	NP_001317139.1:p.Leu395AsnfsTer21
XM_005274606.4:c.1459_1460del	XP_005274663.1:p.Leu487AsnfsTer21
XM_011545592.3:c.1411_1412del	XP_011543894.1:p.Leu471AsnfsTer21
XM_011545594.3:c.1282_1283del	XP_011543896.1:p.Leu428AsnfsTer21
XM_011545597.2:c.1183_1184del	XP_011543899.1:p.Leu395AsnfsTer21
XM_017029909.1:c.1183_1184del	XP_016885398.1:p.Leu395AsnfsTer21
XM_017029911.1:c.661_662del	XP_016885400.1:p.Leu221AsnfsTer21
XM_024452468.1:c.328_329del	XP_024308236.1:p.Leu110AsnfsTer21
XM_024452469.1:c.328_329del	XP_024308237.1:p.Leu110AsnfsTer21
XM_024452470.1:c.328_329del	XP_024308238.1:p.Leu110AsnfsTer21
XM_024452471.1:c.328_329del	XP_024308239.1:p.Leu110AsnfsTer21
NM_003611.3:c.1603_1604del MANE Select	NP_003602.1:p.Leu535AsnfsTer21
NM_001330209.2:c.1483_1484del	NP_001317138.1:p.Leu495AsnfsTer21
NM_001330210.2:c.1183_1184del	NP_001317139.1:p.Leu395AsnfsTer21