Canonical Allele Identifier: CA2573055118

Gene: OFD1

Linked Data

• ClinVar Variation Id: 1333492
• ClinVar RCV Id: RCV001808180
• dbSNP Id: rs2146913390

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13736603_13736609delinsGCCTA , CM000685.2:g.13736603_13736609delinsGCCTA	GRCh38
NC_000023.10:g.13754722_13754728delinsGCCTA , CM000685.1:g.13754722_13754728delinsGCCTA	GRCh37
NC_000023.9:g.13664643_13664649delinsGCCTA	NCBI36
NG_008872.1:g.6891_6897delinsGCCTA
NG_011555.1:g.3015_3021delinsTAGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000380567.6:c.237_243delinsGCCTA	ENSP00000369941.2:p.Asp80ProfsTer8
ENST00000398395.8:c.237_243delinsGCCTA	ENSP00000381432.5:p.Asp80ProfsTer8
ENST00000464463.6:n.520_526delinsGCCTA
ENST00000490265.6:n.152-53_152-47delinsGCCTA
ENST00000682237.1:c.237_243delinsGCCTA	ENSP00000507121.1:p.Asp80ProfsTer8
ENST00000682562.1:c.237_243delinsGCCTA	ENSP00000507874.1:p.Asp80ProfsTer8
ENST00000682953.1:c.*300_*306delinsGCCTA	ENSP00000507878.1:n.*300_*306delinsGCCTA
ENST00000683055.1:c.237_243delinsGCCTA	ENSP00000508191.1:p.Asp80ProfsTer8
ENST00000683284.1:c.112-53_112-47delinsGCCTA	ENSP00000507837.1:n.112-53_112-47delinsGC...
ENST00000683427.1:c.237_243delinsGCCTA	ENSP00000507290.1:p.Asp80ProfsTer8
ENST00000683454.1:n.126_132delinsGCCTA
ENST00000683655.1:c.237_243delinsGCCTA	ENSP00000506770.1:p.Asp80ProfsTer8
ENST00000683713.1:c.237_243delinsGCCTA	ENSP00000507797.1:p.Asp80ProfsTer8
ENST00000684401.1:n.628_634delinsGCCTA
ENST00000684577.1:c.237_243delinsGCCTA	ENSP00000507871.1:p.Asp80ProfsTer8
ENST00000340096.11:c.237_243delinsGCCTA MANE Select	ENSP00000344314.6:p.Asp80ProfsTer8
ENST00000340096.10:c.237_243delinsGCCTA	ENSP00000344314.6:p.Asp80ProfsTer8
ENST00000380550.6:c.237_243delinsGCCTA	ENSP00000369923.3:p.Asp80ProfsTer8
ENST00000380567.5:c.-309_-303delinsGCCTA	ENSP00000369941.1:n.-309_-303delinsGCCTA
ENST00000398395.7:c.-298_-292delinsGCCTA	ENSP00000381432.4:n.-298_-292delinsGCCTA
ENST00000490265.5:n.548_554delinsGCCTA
NM_003611.2:c.237_243delinsGCCTA	NP_003602.1:p.Asp80ProfsTer8
XM_005274599.2:c.258_264delinsGCCTA	XP_005274656.1:p.Asp87ProfsTer8
XM_005274602.2:c.258_264delinsGCCTA	XP_005274659.1:p.Asp87ProfsTer8
XM_005274603.2:c.258_264delinsGCCTA	XP_005274660.1:p.Asp87ProfsTer8
XM_005274604.2:c.237_243delinsGCCTA	XP_005274661.1:p.Asp80ProfsTer8
XM_005274606.2:c.93_99delinsGCCTA	XP_005274663.1:p.Asp32ProfsTer8
XM_011545591.1:c.258_264delinsGCCTA	XP_011543893.1:p.Asp87ProfsTer8
XM_011545592.1:c.98-53_98-47delinsGCCTA	XP_011543894.1:n.98-53_98-47delinsGCCTA
XM_011545593.1:c.258_264delinsGCCTA	XP_011543895.1:p.Asp87ProfsTer8
XM_011545594.1:c.-32-53_-32-47delinsGCCTA	XP_011543896.1:n.-32-53_-32-47delinsGCCTA...
XM_011545595.1:c.-32-53_-32-47delinsGCCTA	XP_011543897.1:n.-32-53_-32-47delinsGCCTA...
XM_011545596.1:c.258_264delinsGCCTA	XP_011543898.1:p.Asp87ProfsTer8
XM_011545597.1:c.-309_-303delinsGCCTA	XP_011543899.1:n.-309_-303delinsGCCTA
XR_247288.2:n.597_603delinsGCCTA
NM_001330209.1:c.237_243delinsGCCTA	NP_001317138.1:p.Asp80ProfsTer8
NM_001330210.1:c.-309_-303delinsGCCTA	NP_001317139.1:n.-309_-303delinsGCCTA
XM_005274606.4:c.93_99delinsGCCTA	XP_005274663.1:p.Asp32ProfsTer8
XM_011545592.3:c.98-53_98-47delinsGCCTA	XP_011543894.1:n.98-53_98-47delinsGCCTA
XM_011545594.3:c.-32-53_-32-47delinsGCCTA	XP_011543896.1:n.-32-53_-32-47delinsGCCTA...
XM_011545597.2:c.-309_-303delinsGCCTA	XP_011543899.1:n.-309_-303delinsGCCTA
XM_017029909.1:c.-256-53_-256-47delinsGCCTA	XP_016885398.1:n.-256-53_-256-47delinsGCC...
XM_024452468.1:c.-1703_-1697delinsGCCTA	XP_024308236.1:n.-1703_-1697delinsGCCTA
XM_024452469.1:c.-1703_-1697delinsGCCTA	XP_024308237.1:n.-1703_-1697delinsGCCTA
XM_024452470.1:c.-1650-53_-1650-47delinsGCCTA	XP_024308238.1:n.-1650-53_-1650-47delinsG...
XM_024452471.1:c.-1703_-1697delinsGCCTA	XP_024308239.1:n.-1703_-1697delinsGCCTA
NM_003611.3:c.237_243delinsGCCTA MANE Select	NP_003602.1:p.Asp80ProfsTer8
NM_001330209.2:c.237_243delinsGCCTA	NP_001317138.1:p.Asp80ProfsTer8
NM_001330210.2:c.-309_-303delinsGCCTA	NP_001317139.1:n.-309_-303delinsGCCTA