Canonical Allele Identifier: CA2608268395

Gene: OPTN

Linked Data

• gnomAD v4: 10-13125888-CTATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13125889_13125892del , CM000672.2:g.13125889_13125892del	GRCh38
NC_000010.10:g.13167889_13167892del , CM000672.1:g.13167889_13167892del	GRCh37
NC_000010.9:g.13207895_13207898del	NCBI36
NG_012876.1:g.30808_30811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1149-57_1149-54del MANE Select	ENSP00000368021.3:n.1149-57_1149-54del
ENST00000263036.9:c.1149-57_1149-54del	ENSP00000263036.3:n.1149-57_1149-54del
ENST00000378747.7:c.1149-57_1149-54del	ENSP00000368021.3:n.1149-57_1149-54del
ENST00000378748.7:c.1149-57_1149-54del	ENSP00000368022.3:n.1149-57_1149-54del
ENST00000378752.7:c.1131-57_1131-54del	ENSP00000368027.3:n.1131-57_1131-54del
ENST00000378757.6:c.1149-57_1149-54del	ENSP00000368032.2:n.1149-57_1149-54del
ENST00000378764.6:c.1131-57_1131-54del	ENSP00000368040.1:n.1131-57_1131-54del
NM_001008211.1:c.1149-57_1149-54del	NP_001008212.1:n.1149-57_1149-54del
NM_001008212.1:c.1149-57_1149-54del	NP_001008213.1:n.1149-57_1149-54del
NM_001008213.1:c.1149-57_1149-54del	NP_001008214.1:n.1149-57_1149-54del
NM_021980.4:c.1149-57_1149-54del	NP_068815.2:n.1149-57_1149-54del
XM_005252336.2:c.1131-57_1131-54del	XP_005252393.2:n.1131-57_1131-54del
XM_005252337.3:c.1131-57_1131-54del	XP_005252394.2:n.1131-57_1131-54del
XM_005252338.2:c.978-57_978-54del	XP_005252395.2:n.978-57_978-54del
NM_001008212.2:c.1149-57_1149-54del MANE Select	NP_001008213.1:n.1149-57_1149-54del