Canonical Allele Identifier: CA877568106

Gene: OPHN1

Linked Data

• dbSNP Id: rs1386562132
• gnomAD v3: X-68063963-CT-C
• gnomAD v4: X-68063963-CT-C
• MyVariant Identifiers: chrX:g.67283806del (hg19) ; chrX:g.68063964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063965del , CM000685.2:g.68063965del	GRCh38
NC_000023.10:g.67283807del , CM000685.1:g.67283807del	GRCh37
NC_000023.9:g.67200532del	NCBI36
NG_008960.1:g.374494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2048del MANE Select	ENSP00000347710.5:p.Lys683ArgfsTer24
ENST00000679748.1:c.1834+9188del	ENSP00000505800.1:n.1834+9188del
ENST00000679822.1:c.1834+9188del	ENSP00000505810.1:n.1834+9188del
ENST00000680592.1:n.1554del
ENST00000680612.1:c.1686+32906del	ENSP00000505365.1:n.1686+32906del
ENST00000681408.1:c.1943del	ENSP00000506619.1:p.Lys648ArgfsTer24
ENST00000355520.5:c.2048del	ENSP00000347710.5:p.Lys683ArgfsTer24
ENST00000484842.1:n.664del
NM_002547.2:c.2048del	NP_002538.1:p.Lys683ArgfsTer24
XM_005262270.1:c.1834+9188del	XP_005262327.1:n.1834+9188del
XM_006724653.1:c.2048del	XP_006724716.1:p.Lys683ArgfsTer24
XM_011530961.1:c.2048del	XP_011529263.1:p.Lys683ArgfsTer24
XM_006724653.2:c.2048del	XP_006724716.1:p.Lys683ArgfsTer24
NM_002547.3:c.2048del MANE Select	NP_002538.1:p.Lys683ArgfsTer24