Canonical Allele Identifier: CA330825359

Gene: OPHN1

Linked Data

• dbSNP Id: rs922801747
• gnomAD v2: X-67518702-TCCTAATCAACCTC-T
• gnomAD v3: X-68298860-TCCTAATCAACCTC-T
• gnomAD v4: X-68298860-TCCTAATCAACCTC-T
• MyVariant Identifiers: chrX:g.67518703_67518715del (hg19) ; chrX:g.68298861_68298873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68298863_68298875del , CM000685.2:g.68298863_68298875del	GRCh38
NC_000023.10:g.67518705_67518717del , CM000685.1:g.67518705_67518717del	GRCh37
NC_000023.9:g.67435430_67435442del	NCBI36
NG_008960.1:g.139585_139597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.250+128_250+140del MANE Select	ENSP00000347710.5:n.250+128_250+140del
ENST00000679748.1:c.250+128_250+140del	ENSP00000505800.1:n.250+128_250+140del
ENST00000679822.1:c.250+128_250+140del	ENSP00000505810.1:n.250+128_250+140del
ENST00000679914.1:n.609+128_609+140del
ENST00000680417.1:n.71+128_71+140del
ENST00000680503.1:n.927+128_927+140del
ENST00000680612.1:c.250+128_250+140del	ENSP00000505365.1:n.250+128_250+140del
ENST00000681408.1:c.250+128_250+140del	ENSP00000506619.1:n.250+128_250+140del
ENST00000355520.5:c.250+128_250+140del	ENSP00000347710.5:n.250+128_250+140del
NM_002547.2:c.250+128_250+140del	NP_002538.1:n.250+128_250+140del
XM_005262270.1:c.250+128_250+140del	XP_005262327.1:n.250+128_250+140del
XM_006724653.1:c.250+128_250+140del	XP_006724716.1:n.250+128_250+140del
XM_011530961.1:c.250+128_250+140del	XP_011529263.1:n.250+128_250+140del
XM_006724653.2:c.250+128_250+140del	XP_006724716.1:n.250+128_250+140del
XM_017029555.1:c.250+128_250+140del	XP_016885044.1:n.250+128_250+140del
NM_002547.3:c.250+128_250+140del MANE Select	NP_002538.1:n.250+128_250+140del