Canonical Allele Identifier: CA10436790

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 2161502
• ClinVar RCV Id: RCV003078603
• dbSNP Id: rs748411808
• ExAC: X:67283755 TTGG / T
• gnomAD v2: X-67283755-TTGG-T
• gnomAD v3: X-68063913-TTGG-T
• gnomAD v4: X-68063913-TTGG-T
• MyVariant Identifiers: chrX:g.67283756_67283758del (hg19) ; chrX:g.68063914_68063916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063917_68063919del , CM000685.2:g.68063917_68063919del	GRCh38
NC_000023.10:g.67283759_67283761del , CM000685.1:g.67283759_67283761del	GRCh37
NC_000023.9:g.67200484_67200486del	NCBI36
NG_008960.1:g.374542_374544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2096_2098del MANE Select	ENSP00000347710.5:p.Thr699del
ENST00000679748.1:c.1834+9236_1834+9238del	ENSP00000505800.1:n.1834+9236_1834+9238del
ENST00000679822.1:c.1834+9236_1834+9238del	ENSP00000505810.1:n.1834+9236_1834+9238del
ENST00000680592.1:n.1602_1604del
ENST00000680612.1:c.1686+32954_1686+32956del	ENSP00000505365.1:n.1686+32954_1686+32956del
ENST00000681408.1:c.1991_1993del	ENSP00000506619.1:p.Thr664del
ENST00000355520.5:c.2096_2098del	ENSP00000347710.5:p.Thr699del
ENST00000484842.1:n.712_714del
NM_002547.2:c.2096_2098del	NP_002538.1:p.Thr699del
XM_005262270.1:c.1834+9236_1834+9238del	XP_005262327.1:n.1834+9236_1834+9238del
XM_006724653.1:c.2096_2098del	XP_006724716.1:p.Thr699del
XM_011530961.1:c.2096_2098del	XP_011529263.1:p.Thr699del
XM_006724653.2:c.2096_2098del	XP_006724716.1:p.Thr699del
NM_002547.3:c.2096_2098del MANE Select	NP_002538.1:p.Thr699del