Canonical Allele Identifier: CA642399959

Gene: OPHN1

Linked Data

• dbSNP Id: rs1310038359
• gnomAD v2: X-67518956-CAA-C
• gnomAD v4: X-68299114-CAA-C
• MyVariant Identifiers: chrX:g.67518957_67518958del (hg19) ; chrX:g.68299115_68299116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68299115_68299116del , CM000685.2:g.68299115_68299116del	GRCh38
NC_000023.10:g.67518957_67518958del , CM000685.1:g.67518957_67518958del	GRCh37
NC_000023.9:g.67435682_67435683del	NCBI36
NG_008960.1:g.139342_139343del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.155-20_155-19del MANE Select	ENSP00000347710.5:n.155-20_155-19del
ENST00000679748.1:c.155-20_155-19del	ENSP00000505800.1:n.155-20_155-19del
ENST00000679822.1:c.155-20_155-19del	ENSP00000505810.1:n.155-20_155-19del
ENST00000679914.1:n.514-20_514-19del
ENST00000680503.1:n.832-20_832-19del
ENST00000680612.1:c.155-20_155-19del	ENSP00000505365.1:n.155-20_155-19del
ENST00000681408.1:c.155-20_155-19del	ENSP00000506619.1:n.155-20_155-19del
ENST00000355520.5:c.155-20_155-19del	ENSP00000347710.5:n.155-20_155-19del
ENST00000486068.1:n.25-20_25-19del
NM_002547.2:c.155-20_155-19del	NP_002538.1:n.155-20_155-19del
XM_005262270.1:c.155-20_155-19del	XP_005262327.1:n.155-20_155-19del
XM_006724653.1:c.155-20_155-19del	XP_006724716.1:n.155-20_155-19del
XM_011530961.1:c.155-20_155-19del	XP_011529263.1:n.155-20_155-19del
XM_006724653.2:c.155-20_155-19del	XP_006724716.1:n.155-20_155-19del
XM_017029555.1:c.155-20_155-19del	XP_016885044.1:n.155-20_155-19del
NM_002547.3:c.155-20_155-19del MANE Select	NP_002538.1:n.155-20_155-19del