Canonical Allele Identifier: CA2542285185

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063932_68063933insAA , CM000685.2:g.68063932_68063933insAA	GRCh38
NC_000023.10:g.67283774_67283775insAA , CM000685.1:g.67283774_67283775insAA	GRCh37
NC_000023.9:g.67200499_67200500insAA	NCBI36
NG_008960.1:g.374525_374526insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2079_2080insTT MANE Select	ENSP00000347710.5:p.Pro694PhefsTer14
ENST00000679748.1:c.1834+9219_1834+9220insTT	ENSP00000505800.1:n.1834+9219_1834+9220insTT
ENST00000679822.1:c.1834+9219_1834+9220insTT	ENSP00000505810.1:n.1834+9219_1834+9220insTT
ENST00000680592.1:n.1585_1586insTT
ENST00000680612.1:c.1686+32937_1686+32938insTT	ENSP00000505365.1:n.1686+32937_1686+32938insTT
ENST00000681408.1:c.1974_1975insTT	ENSP00000506619.1:p.Pro659PhefsTer14
ENST00000355520.5:c.2079_2080insTT	ENSP00000347710.5:p.Pro694PhefsTer14
ENST00000484842.1:n.695_696insTT
NM_002547.2:c.2079_2080insTT	NP_002538.1:p.Pro694PhefsTer14
XM_005262270.1:c.1834+9219_1834+9220insTT	XP_005262327.1:n.1834+9219_1834+9220insTT
XM_006724653.1:c.2079_2080insTT	XP_006724716.1:p.Pro694PhefsTer14
XM_011530961.1:c.2079_2080insTT	XP_011529263.1:p.Pro694PhefsTer14
XM_006724653.2:c.2079_2080insTT	XP_006724716.1:p.Pro694PhefsTer14
NM_002547.3:c.2079_2080insTT MANE Select	NP_002538.1:p.Pro694PhefsTer14