Canonical Allele Identifier: CA330825368

Gene: OPHN1

Linked Data

• dbSNP Id: rs34265289

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68299105dup , CM000685.2:g.68299105dup	GRCh38
NC_000023.10:g.67518947dup , CM000685.1:g.67518947dup	GRCh37
NC_000023.9:g.67435672dup	NCBI36
NG_008960.1:g.139354dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.155-8dup MANE Select	ENSP00000347710.5:n.155-8dup
ENST00000679748.1:c.155-8dup	ENSP00000505800.1:n.155-8dup
ENST00000679822.1:c.155-8dup	ENSP00000505810.1:n.155-8dup
ENST00000679914.1:n.514-8dup
ENST00000680503.1:n.832-8dup
ENST00000680612.1:c.155-8dup	ENSP00000505365.1:n.155-8dup
ENST00000681408.1:c.155-8dup	ENSP00000506619.1:n.155-8dup
ENST00000355520.5:c.155-8dup	ENSP00000347710.5:n.155-8dup
ENST00000486068.1:n.25-8dup
NM_002547.2:c.155-8dup	NP_002538.1:n.155-8dup
XM_005262270.1:c.155-8dup	XP_005262327.1:n.155-8dup
XM_006724653.1:c.155-8dup	XP_006724716.1:n.155-8dup
XM_011530961.1:c.155-8dup	XP_011529263.1:n.155-8dup
XM_006724653.2:c.155-8dup	XP_006724716.1:n.155-8dup
XM_017029555.1:c.155-8dup	XP_016885044.1:n.155-8dup
NM_002547.3:c.155-8dup MANE Select	NP_002538.1:n.155-8dup