Canonical Allele Identifier: CA2693959060

Gene: OPHN1

Linked Data

• gnomAD v4: X-68298996-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68298998del , CM000685.2:g.68298998del	GRCh38
NC_000023.10:g.67518840del , CM000685.1:g.67518840del	GRCh37
NC_000023.9:g.67435565del	NCBI36
NG_008960.1:g.139461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.250+4del MANE Select	ENSP00000347710.5:n.250+4del
ENST00000679748.1:c.250+4del	ENSP00000505800.1:n.250+4del
ENST00000679822.1:c.250+4del	ENSP00000505810.1:n.250+4del
ENST00000679914.1:n.609+4del
ENST00000680417.1:n.71+4del
ENST00000680503.1:n.927+4del
ENST00000680612.1:c.250+4del	ENSP00000505365.1:n.250+4del
ENST00000681408.1:c.250+4del	ENSP00000506619.1:n.250+4del
ENST00000355520.5:c.250+4del	ENSP00000347710.5:n.250+4del
NM_002547.2:c.250+4del	NP_002538.1:n.250+4del
XM_005262270.1:c.250+4del	XP_005262327.1:n.250+4del
XM_006724653.1:c.250+4del	XP_006724716.1:n.250+4del
XM_011530961.1:c.250+4del	XP_011529263.1:n.250+4del
XM_006724653.2:c.250+4del	XP_006724716.1:n.250+4del
XM_017029555.1:c.250+4del	XP_016885044.1:n.250+4del
NM_002547.3:c.250+4del MANE Select	NP_002538.1:n.250+4del