Canonical Allele Identifier: CA335706861

Gene: OCRL

Linked Data

• dbSNP Id: rs779171865
• gnomAD v2: X-128703444-TCAGAA-T
• gnomAD v3: X-129569467-TCAGAA-T
• gnomAD v4: X-129569467-TCAGAA-T
• MyVariant Identifiers: chrX:g.128703445_128703449del (hg19) ; chrX:g.129569468_129569472del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569472_129569476del , CM000685.2:g.129569472_129569476del	GRCh38
NC_000023.10:g.128703449_128703453del , CM000685.1:g.128703449_128703453del	GRCh37
NC_000023.9:g.128531130_128531134del	NCBI36
NG_008638.1:g.34198_34202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1894+73_*1894+77del	ENSP00000510265.1:n.*1894+73_*1894+77del
ENST00000693473.1:c.1719+73_1719+77del
ENST00000371113.9:c.1602+73_1602+77del MANE Select	ENSP00000360154.4:n.1602+73_1602+77del
ENST00000646010.1:c.1650+73_1650+77del
ENST00000646914.1:c.713+73_713+77del
ENST00000647245.1:c.1253+73_1253+77del
ENST00000357121.5:c.1602+73_1602+77del	ENSP00000349635.5:n.1602+73_1602+77del
ENST00000371113.8:c.1602+73_1602+77del	ENSP00000360154.4:n.1602+73_1602+77del
NM_000276.3:c.1602+73_1602+77del	NP_000267.2:n.1602+73_1602+77del
NM_001587.3:c.1602+73_1602+77del	NP_001578.2:n.1602+73_1602+77del
XM_005262422.1:c.1131+73_1131+77del	XP_005262479.1:n.1131+73_1131+77del
XM_011531342.1:c.1605+73_1605+77del	XP_011529644.1:n.1605+73_1605+77del
XM_011531343.1:c.1605+73_1605+77del	XP_011529645.1:n.1605+73_1605+77del
XM_011531344.1:c.1458+73_1458+77del	XP_011529646.1:n.1458+73_1458+77del
XM_011531345.1:c.1458+73_1458+77del	XP_011529647.1:n.1458+73_1458+77del
XM_011531346.1:c.1605+73_1605+77del	XP_011529648.1:n.1605+73_1605+77del
NM_001318784.1:c.1605+73_1605+77del	NP_001305713.1:n.1605+73_1605+77del
XM_005262422.2:c.1131+73_1131+77del	XP_005262479.1:n.1131+73_1131+77del
XM_011531344.3:c.1458+73_1458+77del	XP_011529646.1:n.1458+73_1458+77del
XM_011531345.3:c.1458+73_1458+77del	XP_011529647.1:n.1458+73_1458+77del
XM_017029554.1:c.1602+73_1602+77del	XP_016885043.1:n.1602+73_1602+77del
NM_000276.4:c.1602+73_1602+77del MANE Select	NP_000267.2:n.1602+73_1602+77del
NM_001318784.2:c.1605+73_1605+77del	NP_001305713.1:n.1605+73_1605+77del
NM_001587.4:c.1602+73_1602+77del	NP_001578.2:n.1602+73_1602+77del