Canonical Allele Identifier: CA2669105926

Gene: OPA1

Linked Data

• gnomAD v4: 3-193646996-TTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647001_193647003del , CM000665.2:g.193647001_193647003del	GRCh38
NC_000003.11:g.193364790_193364792del , CM000665.1:g.193364790_193364792del	GRCh37
NC_000003.10:g.194847484_194847486del	NCBI36
NG_011605.1:g.58858_58860del , LRG_337:g.58858_58860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1755-64_1755-62del MANE Select	ENSP00000355324.2:n.1755-64_1755-62del
ENST00000361828.7:c.1590-64_1590-62del	ENSP00000354429.3:n.1590-64_1590-62del
ENST00000361908.8:c.1701-64_1701-62del	ENSP00000354681.3:n.1701-64_1701-62del
ENST00000392436.7:c.1590-64_1590-62del	ENSP00000376231.3:n.1590-64_1590-62del
ENST00000392437.6:c.1644-64_1644-62del	ENSP00000376232.2:n.1644-64_1644-62del
ENST00000642289.1:c.1529-64_1529-62del
ENST00000642445.1:c.1590-64_1590-62del	ENSP00000495535.1:n.1590-64_1590-62del
ENST00000642593.1:c.1590-64_1590-62del	ENSP00000494273.1:n.1590-64_1590-62del
ENST00000643329.1:c.1272-64_1272-62del	ENSP00000493673.1:n.1272-64_1272-62del
ENST00000643737.1:c.*1671-64_*1671-62del	ENSP00000494210.1:n.*1671-64_*1671-62del
ENST00000644595.1:c.1590-64_1590-62del	ENSP00000494121.1:n.1590-64_1590-62del
ENST00000644629.1:c.1177-64_1177-62del
ENST00000644841.1:c.*74-64_*74-62del	ENSP00000493988.1:n.*74-64_*74-62del
ENST00000644959.1:c.1559-64_1559-62del
ENST00000645553.1:c.1605-64_1605-62del	ENSP00000494725.1:n.1605-64_1605-62del
ENST00000646085.1:c.*1068-64_*1068-62del	ENSP00000494509.1:n.*1068-64_*1068-62del
ENST00000646277.1:c.*191-64_*191-62del	ENSP00000495289.1:n.*191-64_*191-62del
ENST00000646544.1:c.578-64_578-62del
ENST00000646699.1:c.1529-64_1529-62del
ENST00000646793.1:c.1482-64_1482-62del	ENSP00000494512.1:n.1482-64_1482-62del
ENST00000361150.6:c.1593-64_1593-62del	ENSP00000354781.2:n.1593-64_1593-62del
ENST00000361510.6:c.1755-64_1755-62del	ENSP00000355324.2:n.1755-64_1755-62del
ENST00000361715.6:c.1647-64_1647-62del	ENSP00000355311.2:n.1647-64_1647-62del
ENST00000361828.6:c.1644-64_1644-62del	ENSP00000354429.2:n.1644-64_1644-62del
ENST00000361908.7:c.1701-64_1701-62del	ENSP00000354681.3:n.1701-64_1701-62del
ENST00000392438.7:c.1590-64_1590-62del	ENSP00000376233.3:n.1590-64_1590-62del
ENST00000483516.1:n.88-64_88-62del
NM_015560.2:c.1590-64_1590-62del , LRG_337t1:c.1590-64_1590-62del	NP_056375.2:n.1590-64_1590-62del
NM_130831.2:c.1482-64_1482-62del	NP_570844.1:n.1482-64_1482-62del
NM_130832.2:c.1536-64_1536-62del	NP_570845.1:n.1536-64_1536-62del
NM_130833.2:c.1593-64_1593-62del	NP_570846.1:n.1593-64_1593-62del
NM_130834.2:c.1644-64_1644-62del	NP_570847.2:n.1644-64_1644-62del
NM_130835.2:c.1647-64_1647-62del	NP_570848.1:n.1647-64_1647-62del
NM_130836.2:c.1701-64_1701-62del	NP_570849.2:n.1701-64_1701-62del
NM_130837.2:c.1755-64_1755-62del , LRG_337t2:c.1755-64_1755-62del	NP_570850.2:n.1755-64_1755-62del
XM_011512863.1:c.1755-64_1755-62del	XP_011511165.1:n.1755-64_1755-62del
XM_011512864.1:c.1701-64_1701-62del	XP_011511166.1:n.1701-64_1701-62del
XM_011512865.1:c.1644-64_1644-62del	XP_011511167.1:n.1644-64_1644-62del
XM_011512866.1:c.1593-64_1593-62del	XP_011511168.1:n.1593-64_1593-62del
XM_011512867.1:c.1590-64_1590-62del	XP_011511169.1:n.1590-64_1590-62del
XM_011512868.1:c.1482-64_1482-62del	XP_011511170.1:n.1482-64_1482-62del
XM_011512869.1:c.1755-64_1755-62del	XP_011511171.1:n.1755-64_1755-62del
NM_001354663.1:c.1221-64_1221-62del	NP_001341592.1:n.1221-64_1221-62del
NM_001354664.1:c.1218-64_1218-62del	NP_001341593.1:n.1218-64_1218-62del
XR_001740158.2:n.1984-64_1984-62del
XR_001740159.2:n.1819-64_1819-62del
NM_001354663.2:c.1221-64_1221-62del	NP_001341592.1:n.1221-64_1221-62del
NM_001354664.2:c.1218-64_1218-62del	NP_001341593.1:n.1218-64_1218-62del
NM_130831.3:c.1482-64_1482-62del	NP_570844.1:n.1482-64_1482-62del
NM_130832.3:c.1536-64_1536-62del	NP_570845.1:n.1536-64_1536-62del
NM_130834.3:c.1644-64_1644-62del	NP_570847.2:n.1644-64_1644-62del
NM_130836.3:c.1701-64_1701-62del	NP_570849.2:n.1701-64_1701-62del
NM_015560.3:c.1590-64_1590-62del	NP_056375.2:n.1590-64_1590-62del
NM_130833.3:c.1593-64_1593-62del	NP_570846.1:n.1593-64_1593-62del
NM_130835.3:c.1647-64_1647-62del	NP_570848.1:n.1647-64_1647-62del
NM_130837.3:c.1755-64_1755-62del MANE Select	NP_570850.2:n.1755-64_1755-62del