Canonical Allele Identifier: CA645369747

Gene: OFD1

Linked Data

• ClinVar Variation Id: 429830
• ClinVar RCV Id: RCV000492845
• dbSNP Id: rs1131691619
• MyVariant Identifiers: chrX:g.13773362_13773363del (hg19) ; chrX:g.13755243_13755244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13755243_13755244del , CM000685.2:g.13755243_13755244del	GRCh38
NC_000023.10:g.13773362_13773363del , CM000685.1:g.13773362_13773363del	GRCh37
NC_000023.9:g.13683283_13683284del	NCBI36
NG_008872.1:g.25531_25532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380567.6:c.*914+1_*914+2del	ENSP00000369941.2:n.*914+1_*914+2del
ENST00000398395.8:c.*794+1_*794+2del	ENSP00000381432.5:n.*794+1_*794+2del
ENST00000464463.6:n.1384+1_1384+2del
ENST00000490265.6:n.1750+1_1750+2del
ENST00000682237.1:c.*781+1_*781+2del	ENSP00000507121.1:n.*781+1_*781+2del
ENST00000682562.1:c.*2623+1_*2623+2del	ENSP00000507874.1:n.*2623+1_*2623+2del
ENST00000682953.1:c.*1948+1_*1948+2del	ENSP00000507878.1:n.*1948+1_*1948+2del
ENST00000683055.1:c.831-1335_831-1334del	ENSP00000508191.1:n.831-1335_831-1334del
ENST00000683284.1:c.*1452+1_*1452+2del	ENSP00000507837.1:n.*1452+1_*1452+2del
ENST00000683427.1:c.936-1335_936-1334del	ENSP00000507290.1:n.936-1335_936-1334del
ENST00000683454.1:n.1235+1_1235+2del
ENST00000683637.1:n.2330+1_2330+2del
ENST00000683655.1:c.*1435+1_*1435+2del	ENSP00000506770.1:n.*1435+1_*1435+2del
ENST00000683713.1:c.*1452+1_*1452+2del	ENSP00000507797.1:n.*1452+1_*1452+2del
ENST00000684577.1:c.*914+1_*914+2del	ENSP00000507871.1:n.*914+1_*914+2del
ENST00000340096.11:c.1221+1_1221+2del MANE Select	ENSP00000344314.6:n.1221+1_1221+2del
ENST00000340096.10:c.1221+1_1221+2del	ENSP00000344314.6:n.1221+1_1221+2del
ENST00000380550.6:c.1101+1_1101+2del	ENSP00000369923.3:n.1101+1_1101+2del
ENST00000380567.5:c.801+1_801+2del	ENSP00000369941.1:n.801+1_801+2del
ENST00000398395.7:c.690+1_690+2del	ENSP00000381432.4:n.690+1_690+2del
ENST00000490265.5:n.2196+1_2196+2del
NM_003611.2:c.1221+1_1221+2del	NP_003602.1:n.1221+1_1221+2del
XM_005274599.2:c.1242+1_1242+2del	XP_005274656.1:n.1242+1_1242+2del
XM_005274602.2:c.1242+1_1242+2del	XP_005274659.1:n.1242+1_1242+2del
XM_005274603.2:c.1122+1_1122+2del	XP_005274660.1:n.1122+1_1122+2del
XM_005274604.2:c.1101+1_1101+2del	XP_005274661.1:n.1101+1_1101+2del
XM_005274606.2:c.1077+1_1077+2del	XP_005274663.1:n.1077+1_1077+2del
XM_005274607.3:c.801+1_801+2del	XP_005274664.1:n.801+1_801+2del
XM_011545591.1:c.1242+1_1242+2del	XP_011543893.1:n.1242+1_1242+2del
XM_011545592.1:c.1029+1_1029+2del	XP_011543894.1:n.1029+1_1029+2del
XM_011545593.1:c.1242+1_1242+2del	XP_011543895.1:n.1242+1_1242+2del
XM_011545594.1:c.900+1_900+2del	XP_011543896.1:n.900+1_900+2del
XM_011545595.1:c.900+1_900+2del	XP_011543897.1:n.900+1_900+2del
XM_011545596.1:c.1242+1_1242+2del	XP_011543898.1:n.1242+1_1242+2del
XM_011545597.1:c.801+1_801+2del	XP_011543899.1:n.801+1_801+2del
XM_011545598.1:c.-54-1335_-54-1334del	XP_011543900.1:n.-54-1335_-54-1334del
XR_247288.2:n.1581+1_1581+2del
NM_001330209.1:c.1101+1_1101+2del	NP_001317138.1:n.1101+1_1101+2del
NM_001330210.1:c.801+1_801+2del	NP_001317139.1:n.801+1_801+2del
XM_005274606.4:c.1077+1_1077+2del	XP_005274663.1:n.1077+1_1077+2del
XM_011545592.3:c.1029+1_1029+2del	XP_011543894.1:n.1029+1_1029+2del
XM_011545594.3:c.900+1_900+2del	XP_011543896.1:n.900+1_900+2del
XM_011545597.2:c.801+1_801+2del	XP_011543899.1:n.801+1_801+2del
XM_017029909.1:c.801+1_801+2del	XP_016885398.1:n.801+1_801+2del
XM_017029911.1:c.279+1_279+2del	XP_016885400.1:n.279+1_279+2del
XM_024452468.1:c.-55+1_-55+2del	XP_024308236.1:n.-55+1_-55+2del
XM_024452469.1:c.-55+1_-55+2del	XP_024308237.1:n.-55+1_-55+2del
XM_024452470.1:c.-55+1_-55+2del	XP_024308238.1:n.-55+1_-55+2del
XM_024452471.1:c.-55+1_-55+2del	XP_024308239.1:n.-55+1_-55+2del
NM_003611.3:c.1221+1_1221+2del MANE Select	NP_003602.1:n.1221+1_1221+2del
NM_001330209.2:c.1101+1_1101+2del	NP_001317138.1:n.1101+1_1101+2del
NM_001330210.2:c.801+1_801+2del	NP_001317139.1:n.801+1_801+2del