Canonical Allele Identifier: CA2693130034

Gene: OFD1

Linked Data

• gnomAD v4: X-13736383-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13736385_13736386dup , CM000685.2:g.13736385_13736386dup	GRCh38
NC_000023.10:g.13754504_13754505dup , CM000685.1:g.13754504_13754505dup	GRCh37
NC_000023.9:g.13664425_13664426dup	NCBI36
NG_008872.1:g.6673_6674dup
NG_011555.1:g.3239_3240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.112-93_112-92dup	ENSP00000369941.2:n.112-93_112-92dup
ENST00000398395.8:c.112-93_112-92dup	ENSP00000381432.5:n.112-93_112-92dup
ENST00000464463.6:n.395-93_395-92dup
ENST00000485052.6:n.605-93_605-92dup
ENST00000490265.6:n.84-93_84-92dup
ENST00000682237.1:c.112-93_112-92dup	ENSP00000507121.1:n.112-93_112-92dup
ENST00000682562.1:c.112-93_112-92dup	ENSP00000507874.1:n.112-93_112-92dup
ENST00000682953.1:c.*174+89_*174+90dup	ENSP00000507878.1:n.*174+89_*174+90dup
ENST00000683055.1:c.112-93_112-92dup	ENSP00000508191.1:n.112-93_112-92dup
ENST00000683284.1:c.112-271_112-270dup	ENSP00000507837.1:n.112-271_112-270dup
ENST00000683427.1:c.112-93_112-92dup	ENSP00000507290.1:n.112-93_112-92dup
ENST00000683655.1:c.112-93_112-92dup	ENSP00000506770.1:n.112-93_112-92dup
ENST00000683713.1:c.112-93_112-92dup	ENSP00000507797.1:n.112-93_112-92dup
ENST00000684401.1:n.410_411dup
ENST00000684577.1:c.112-93_112-92dup	ENSP00000507871.1:n.112-93_112-92dup
ENST00000340096.11:c.112-93_112-92dup MANE Select	ENSP00000344314.6:n.112-93_112-92dup
ENST00000340096.10:c.112-93_112-92dup	ENSP00000344314.6:n.112-93_112-92dup
ENST00000380550.6:c.112-93_112-92dup	ENSP00000369923.3:n.112-93_112-92dup
ENST00000380567.5:c.-434-93_-434-92dup	ENSP00000369941.1:n.-434-93_-434-92dup
ENST00000398395.7:c.-423-93_-423-92dup	ENSP00000381432.4:n.-423-93_-423-92dup
ENST00000485052.5:n.615+89_615+90dup
ENST00000490265.5:n.423-93_423-92dup
NM_003611.2:c.112-93_112-92dup	NP_003602.1:n.112-93_112-92dup
XM_005274599.2:c.133-93_133-92dup	XP_005274656.1:n.133-93_133-92dup
XM_005274602.2:c.133-93_133-92dup	XP_005274659.1:n.133-93_133-92dup
XM_005274603.2:c.133-93_133-92dup	XP_005274660.1:n.133-93_133-92dup
XM_005274604.2:c.112-93_112-92dup	XP_005274661.1:n.112-93_112-92dup
XM_005274606.2:c.-34+89_-34+90dup	XP_005274663.1:n.-34+89_-34+90dup
XM_011545591.1:c.133-93_133-92dup	XP_011543893.1:n.133-93_133-92dup
XM_011545592.1:c.97+89_97+90dup	XP_011543894.1:n.97+89_97+90dup
XM_011545593.1:c.133-93_133-92dup	XP_011543895.1:n.133-93_133-92dup
XM_011545594.1:c.-32-271_-32-270dup	XP_011543896.1:n.-32-271_-32-270dup
XM_011545595.1:c.-32-271_-32-270dup	XP_011543897.1:n.-32-271_-32-270dup
XM_011545596.1:c.133-93_133-92dup	XP_011543898.1:n.133-93_133-92dup
XM_011545597.1:c.-434-93_-434-92dup	XP_011543899.1:n.-434-93_-434-92dup
XR_247288.2:n.472-93_472-92dup
NM_001330209.1:c.112-93_112-92dup	NP_001317138.1:n.112-93_112-92dup
NM_001330210.1:c.-434-93_-434-92dup	NP_001317139.1:n.-434-93_-434-92dup
XM_005274606.4:c.-34+89_-34+90dup	XP_005274663.1:n.-34+89_-34+90dup
XM_011545592.3:c.97+89_97+90dup	XP_011543894.1:n.97+89_97+90dup
XM_011545594.3:c.-32-271_-32-270dup	XP_011543896.1:n.-32-271_-32-270dup
XM_011545597.2:c.-434-93_-434-92dup	XP_011543899.1:n.-434-93_-434-92dup
XM_017029909.1:c.-256-271_-256-270dup	XP_016885398.1:n.-256-271_-256-270dup
XM_024452468.1:c.-1828-93_-1828-92dup	XP_024308236.1:n.-1828-93_-1828-92dup
XM_024452469.1:c.-1829+89_-1829+90dup	XP_024308237.1:n.-1829+89_-1829+90dup
XM_024452470.1:c.-1650-271_-1650-270dup	XP_024308238.1:n.-1650-271_-1650-270dup
XM_024452471.1:c.-1828-93_-1828-92dup	XP_024308239.1:n.-1828-93_-1828-92dup
NM_003611.3:c.112-93_112-92dup MANE Select	NP_003602.1:n.112-93_112-92dup
NM_001330209.2:c.112-93_112-92dup	NP_001317138.1:n.112-93_112-92dup
NM_001330210.2:c.-434-93_-434-92dup	NP_001317139.1:n.-434-93_-434-92dup