Canonical Allele Identifier: CA2435289677

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063913_68063916delinsTTGG , CM000685.2:g.68063913_68063916delinsTTGG	GRCh38
NC_000023.10:g.67283755_67283758delinsTTGG , CM000685.1:g.67283755_67283758delinsTTGG	GRCh37
NC_000023.9:g.67200480_67200483delinsTTGG	NCBI36
NG_008960.1:g.374542_374545delinsCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2096_2099delinsCCAA MANE Select	ENSP00000347710.5:p.Thr699=
ENST00000679748.1:c.1834+9236_1834+9239delinsCCAA	ENSP00000505800.1:n.1834+9236_1834+9239delinsCCAA
ENST00000679822.1:c.1834+9236_1834+9239delinsCCAA	ENSP00000505810.1:n.1834+9236_1834+9239delinsCCAA
ENST00000680592.1:n.1602_1605delinsCCAA
ENST00000680612.1:c.1686+32954_1686+32957delinsCCAA	ENSP00000505365.1:n.1686+32954_1686+32957delinsCCAA
ENST00000681408.1:c.1991_1994delinsCCAA	ENSP00000506619.1:p.Thr664=
ENST00000355520.5:c.2096_2099delinsCCAA	ENSP00000347710.5:p.Thr699=
ENST00000484842.1:n.712_715delinsCCAA
NM_002547.2:c.2096_2099delinsCCAA	NP_002538.1:p.Thr699=
XM_005262270.1:c.1834+9236_1834+9239delinsCCAA	XP_005262327.1:n.1834+9236_1834+9239delinsCCAA
XM_006724653.1:c.2096_2099delinsCCAA	XP_006724716.1:p.Thr699=
XM_011530961.1:c.2096_2099delinsCCAA	XP_011529263.1:p.Thr699=
XM_006724653.2:c.2096_2099delinsCCAA	XP_006724716.1:p.Thr699=
NM_002547.3:c.2096_2099delinsCCAA MANE Select	NP_002538.1:p.Thr699=