Canonical Allele Identifier: CA326106448

Gene: OFD1

Linked Data

• ClinVar Variation Id: 1257452
• ClinVar RCV Id: RCV001668716
• dbSNP Id: rs3214140
• gnomAD v2: X-13754422-CA-C
• gnomAD v3: X-13736303-CA-C
• gnomAD v4: X-13736303-CA-C
• COSMIC: COSN18744549 ; COSN18744560
• MyVariant Identifiers: chrX:g.13754423del (hg19) ; chrX:g.13736304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13736306del , CM000685.2:g.13736306del	GRCh38
NC_000023.10:g.13754425del , CM000685.1:g.13754425del	GRCh37
NC_000023.9:g.13664346del	NCBI36
NG_008872.1:g.6594del
NG_011555.1:g.3320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.112-172del	ENSP00000369941.2:n.112-172del
ENST00000398395.8:c.112-172del	ENSP00000381432.5:n.112-172del
ENST00000464463.6:n.395-172del
ENST00000485052.6:n.605-172del
ENST00000490265.6:n.84-172del
ENST00000682237.1:c.112-172del	ENSP00000507121.1:n.112-172del
ENST00000682562.1:c.112-172del	ENSP00000507874.1:n.112-172del
ENST00000682953.1:c.*174+10del	ENSP00000507878.1:n.*174+10del
ENST00000683055.1:c.112-172del	ENSP00000508191.1:n.112-172del
ENST00000683284.1:c.112-350del	ENSP00000507837.1:n.112-350del
ENST00000683427.1:c.112-172del	ENSP00000507290.1:n.112-172del
ENST00000683655.1:c.112-172del	ENSP00000506770.1:n.112-172del
ENST00000683713.1:c.112-172del	ENSP00000507797.1:n.112-172del
ENST00000684401.1:n.331del
ENST00000684577.1:c.112-172del	ENSP00000507871.1:n.112-172del
ENST00000340096.11:c.112-172del MANE Select	ENSP00000344314.6:n.112-172del
ENST00000340096.10:c.112-172del	ENSP00000344314.6:n.112-172del
ENST00000380550.6:c.112-172del	ENSP00000369923.3:n.112-172del
ENST00000380567.5:c.-434-172del	ENSP00000369941.1:n.-434-172del
ENST00000398395.7:c.-423-172del	ENSP00000381432.4:n.-423-172del
ENST00000485052.5:n.615+10del
ENST00000490265.5:n.423-172del
NM_003611.2:c.112-172del	NP_003602.1:n.112-172del
XM_005274599.2:c.133-172del	XP_005274656.1:n.133-172del
XM_005274602.2:c.133-172del	XP_005274659.1:n.133-172del
XM_005274603.2:c.133-172del	XP_005274660.1:n.133-172del
XM_005274604.2:c.112-172del	XP_005274661.1:n.112-172del
XM_005274606.2:c.-34+10del	XP_005274663.1:n.-34+10del
XM_011545591.1:c.133-172del	XP_011543893.1:n.133-172del
XM_011545592.1:c.97+10del	XP_011543894.1:n.97+10del
XM_011545593.1:c.133-172del	XP_011543895.1:n.133-172del
XM_011545594.1:c.-32-350del	XP_011543896.1:n.-32-350del
XM_011545595.1:c.-32-350del	XP_011543897.1:n.-32-350del
XM_011545596.1:c.133-172del	XP_011543898.1:n.133-172del
XM_011545597.1:c.-434-172del	XP_011543899.1:n.-434-172del
XR_247288.2:n.472-172del
NM_001330209.1:c.112-172del	NP_001317138.1:n.112-172del
NM_001330210.1:c.-434-172del	NP_001317139.1:n.-434-172del
XM_005274606.4:c.-34+10del	XP_005274663.1:n.-34+10del
XM_011545592.3:c.97+10del	XP_011543894.1:n.97+10del
XM_011545594.3:c.-32-350del	XP_011543896.1:n.-32-350del
XM_011545597.2:c.-434-172del	XP_011543899.1:n.-434-172del
XM_017029909.1:c.-256-350del	XP_016885398.1:n.-256-350del
XM_024452468.1:c.-1828-172del	XP_024308236.1:n.-1828-172del
XM_024452469.1:c.-1829+10del	XP_024308237.1:n.-1829+10del
XM_024452470.1:c.-1650-350del	XP_024308238.1:n.-1650-350del
XM_024452471.1:c.-1828-172del	XP_024308239.1:n.-1828-172del
NM_003611.3:c.112-172del MANE Select	NP_003602.1:n.112-172del
NM_001330209.2:c.112-172del	NP_001317138.1:n.112-172del
NM_001330210.2:c.-434-172del	NP_001317139.1:n.-434-172del