Canonical Allele Identifier: CA2608280858

Gene: OPTN

Linked Data

• gnomAD v4: 10-13109244-TGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13109249_13109251del , CM000672.2:g.13109249_13109251del	GRCh38
NC_000010.10:g.13151249_13151251del , CM000672.1:g.13151249_13151251del	GRCh37
NC_000010.9:g.13191255_13191257del	NCBI36
NG_012876.1:g.14168_14170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.127_129del MANE Select	ENSP00000368021.3:p.Gln43del
ENST00000263036.9:c.127_129del	ENSP00000263036.3:p.Gln43del
ENST00000378747.7:c.127_129del	ENSP00000368021.3:p.Gln43del
ENST00000378748.7:c.127_129del	ENSP00000368022.3:p.Gln43del
ENST00000378752.7:c.127_129del	ENSP00000368027.3:p.Gln43del
ENST00000378757.6:c.127_129del	ENSP00000368032.2:p.Gln43del
ENST00000378764.6:c.127_129del	ENSP00000368040.1:p.Gln43del
ENST00000430081.5:c.127_129del	ENSP00000414747.2:p.Gln43del
ENST00000482140.5:c.127_129del	ENSP00000484961.1:p.Gln43del
ENST00000487935.1:n.282_284del
NM_001008211.1:c.127_129del	NP_001008212.1:p.Gln43del
NM_001008212.1:c.127_129del	NP_001008213.1:p.Gln43del
NM_001008213.1:c.127_129del	NP_001008214.1:p.Gln43del
NM_021980.4:c.127_129del	NP_068815.2:p.Gln43del
XM_005252336.2:c.127_129del	XP_005252393.2:p.Gln43del
XM_005252337.3:c.127_129del	XP_005252394.2:p.Gln43del
XM_005252338.2:c.-139_-137del	XP_005252395.2:n.-139_-137del
NM_001008212.2:c.127_129del MANE Select	NP_001008213.1:p.Gln43del