Canonical Allele Identifier: CA5410913

Gene: OPTN

Linked Data

• dbSNP Id: rs755767694
• ExAC: 10:13168063 CCATAGCCTAGTAA / C
• MyVariant Identifiers: chr10:g.13168064_13168076del (hg19) ; chr10:g.13126064_13126076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13126064_13126076del , CM000672.2:g.13126064_13126076del	GRCh38
NC_000010.10:g.13168064_13168076del , CM000672.1:g.13168064_13168076del	GRCh37
NC_000010.9:g.13208070_13208082del	NCBI36
NG_012876.1:g.30983_30995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1242+25_1242+37del MANE Select	ENSP00000368021.3:n.1242+25_1242+37del
ENST00000263036.9:c.1242+25_1242+37del	ENSP00000263036.3:n.1242+25_1242+37del
ENST00000378747.7:c.1242+25_1242+37del	ENSP00000368021.3:n.1242+25_1242+37del
ENST00000378748.7:c.1242+25_1242+37del	ENSP00000368022.3:n.1242+25_1242+37del
ENST00000378752.7:c.1224+25_1224+37del	ENSP00000368027.3:n.1224+25_1224+37del
ENST00000378757.6:c.1242+25_1242+37del	ENSP00000368032.2:n.1242+25_1242+37del
ENST00000378764.6:c.1224+25_1224+37del	ENSP00000368040.1:n.1224+25_1224+37del
NM_001008211.1:c.1242+25_1242+37del	NP_001008212.1:n.1242+25_1242+37del
NM_001008212.1:c.1242+25_1242+37del	NP_001008213.1:n.1242+25_1242+37del
NM_001008213.1:c.1242+25_1242+37del	NP_001008214.1:n.1242+25_1242+37del
NM_021980.4:c.1242+25_1242+37del	NP_068815.2:n.1242+25_1242+37del
XM_005252336.2:c.1224+25_1224+37del	XP_005252393.2:n.1224+25_1224+37del
XM_005252337.3:c.1224+25_1224+37del	XP_005252394.2:n.1224+25_1224+37del
XM_005252338.2:c.1071+25_1071+37del	XP_005252395.2:n.1071+25_1071+37del
NM_001008212.2:c.1242+25_1242+37del MANE Select	NP_001008213.1:n.1242+25_1242+37del