Canonical Allele Identifier: CA2579984144

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68111928_68111931dup , CM000685.2:g.68111928_68111931dup	GRCh38
NC_000023.10:g.67331770_67331773dup , CM000685.1:g.67331770_67331773dup	GRCh37
NC_000023.9:g.67248495_67248498dup	NCBI36
NG_008960.1:g.326528_326531dup

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.1450_1453dup MANE Select	NP_002538.1:p.Ile485SerfsTer8
ENST00000355520.6:c.1450_1453dup MANE Select	ENSP00000347710.5:p.Ile485SerfsTer8
NM_002547.2:c.1450_1453dup	NP_002538.1:p.Ile485SerfsTer8
ENST00000355520.5:c.1450_1453dup	ENSP00000347710.5:p.Ile485SerfsTer8
ENST00000484842.1:n.66_69dup
ENST00000679748.1:c.1450_1453dup	ENSP00000505800.1:p.Ile485SerfsTer8
ENST00000679822.1:c.1450_1453dup	ENSP00000505810.1:p.Ile485SerfsTer8
ENST00000680592.1:n.956_959dup
ENST00000680612.1:c.1450_1453dup	ENSP00000505365.1:p.Ile485SerfsTer8
ENST00000681408.1:c.1345_1348dup	ENSP00000506619.1:p.Ile450SerfsTer8
XM_005262270.1:c.1450_1453dup	XP_005262327.1:p.Ile485SerfsTer8
XM_006724653.1:c.1450_1453dup	XP_006724716.1:p.Ile485SerfsTer8
XM_006724653.2:c.1450_1453dup	XP_006724716.1:p.Ile485SerfsTer8
XM_011530961.1:c.1450_1453dup	XP_011529263.1:p.Ile485SerfsTer8
XM_017029555.1:c.1450_1453dup	XP_016885044.1:p.Ile485SerfsTer8