Canonical Allele Identifier: CA2580101284

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68213861del , CM000685.2:g.68213861del	GRCh38
NC_000023.10:g.67433703del , CM000685.1:g.67433703del	GRCh37
NC_000023.9:g.67350428del	NCBI36
NG_008960.1:g.224597del

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.597+1del MANE Select	NP_002538.1:n.597+1del
ENST00000355520.6:c.597+1del MANE Select	ENSP00000347710.5:n.597+1del
NM_002547.2:c.597+1del	NP_002538.1:n.597+1del
ENST00000355520.5:c.597+1del	ENSP00000347710.5:n.597+1del
ENST00000679748.1:c.597+1del	ENSP00000505800.1:n.597+1del
ENST00000679822.1:c.597+1del	ENSP00000505810.1:n.597+1del
ENST00000679914.1:n.956+1del
ENST00000680503.1:n.1274+1del
ENST00000680612.1:c.597+1del	ENSP00000505365.1:n.597+1del
ENST00000681408.1:c.597+1del	ENSP00000506619.1:n.597+1del
XM_005262270.1:c.597+1del	XP_005262327.1:n.597+1del
XM_006724653.1:c.597+1del	XP_006724716.1:n.597+1del
XM_006724653.2:c.597+1del	XP_006724716.1:n.597+1del
XM_011530961.1:c.597+1del	XP_011529263.1:n.597+1del
XM_017029555.1:c.597+1del	XP_016885044.1:n.597+1del