Canonical Allele Identifier: CA1430250675

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647123_193647124delinsGA , CM000665.2:g.193647123_193647124delinsGA	GRCh38
NC_000003.11:g.193364912_193364913delinsGA , CM000665.1:g.193364912_193364913delinsGA	GRCh37
NC_000003.10:g.194847606_194847607delinsGA	NCBI36
NG_011605.1:g.58980_58981delinsGA , LRG_337:g.58980_58981delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1813_1814delinsGA MANE Select	ENSP00000355324.2:p.Asp605=
ENST00000361828.7:c.1648_1649delinsGA	ENSP00000354429.3:p.Asp550=
ENST00000361908.8:c.1759_1760delinsGA	ENSP00000354681.3:p.Asp587=
ENST00000392436.7:c.1648_1649delinsGA	ENSP00000376231.3:p.Asp550=
ENST00000392437.6:c.1702_1703delinsGA	ENSP00000376232.2:p.Asp568=
ENST00000642289.1:c.1587_1588delinsGA
ENST00000642445.1:c.1648_1649delinsGA	ENSP00000495535.1:p.Asp550=
ENST00000642593.1:c.1648_1649delinsGA	ENSP00000494273.1:p.Asp550=
ENST00000643329.1:c.1330_1331delinsGA	ENSP00000493673.1:p.Asp444=
ENST00000643737.1:c.*1729_*1730delinsGA	ENSP00000494210.1:n.*1729_*1730delinsGA
ENST00000644595.1:c.1648_1649delinsGA	ENSP00000494121.1:p.Asp550=
ENST00000644629.1:c.1235_1236delinsGA
ENST00000644841.1:c.*132_*133delinsGA	ENSP00000493988.1:n.*132_*133delinsGA
ENST00000644959.1:c.1617_1618delinsGA
ENST00000645553.1:c.1663_1664delinsGA	ENSP00000494725.1:p.Asp555=
ENST00000646085.1:c.*1126_*1127delinsGA	ENSP00000494509.1:n.*1126_*1127delinsGA
ENST00000646277.1:c.*249_*250delinsGA	ENSP00000495289.1:n.*249_*250delinsGA
ENST00000646544.1:c.636_637delinsGA
ENST00000646699.1:c.1587_1588delinsGA
ENST00000646793.1:c.1540_1541delinsGA	ENSP00000494512.1:p.Asp514=
ENST00000361150.6:c.1651_1652delinsGA	ENSP00000354781.2:p.Asp551=
ENST00000361510.6:c.1813_1814delinsGA	ENSP00000355324.2:p.Asp605=
ENST00000361715.6:c.1705_1706delinsGA	ENSP00000355311.2:p.Asp569=
ENST00000361828.6:c.1702_1703delinsGA	ENSP00000354429.2:p.Asp568=
ENST00000361908.7:c.1759_1760delinsGA	ENSP00000354681.3:p.Asp587=
ENST00000392438.7:c.1648_1649delinsGA	ENSP00000376233.3:p.Asp550=
ENST00000483516.1:n.146_147delinsGA
NM_015560.2:c.1648_1649delinsGA , LRG_337t1:c.1648_1649delinsGA	NP_056375.2:p.Asp550=
NM_130831.2:c.1540_1541delinsGA	NP_570844.1:p.Asp514=
NM_130832.2:c.1594_1595delinsGA	NP_570845.1:p.Asp532=
NM_130833.2:c.1651_1652delinsGA	NP_570846.1:p.Asp551=
NM_130834.2:c.1702_1703delinsGA	NP_570847.2:p.Asp568=
NM_130835.2:c.1705_1706delinsGA	NP_570848.1:p.Asp569=
NM_130836.2:c.1759_1760delinsGA	NP_570849.2:p.Asp587=
NM_130837.2:c.1813_1814delinsGA , LRG_337t2:c.1813_1814delinsGA	NP_570850.2:p.Asp605=
XM_011512863.1:c.1813_1814delinsGA	XP_011511165.1:p.Asp605=
XM_011512864.1:c.1759_1760delinsGA	XP_011511166.1:p.Asp587=
XM_011512865.1:c.1702_1703delinsGA	XP_011511167.1:p.Asp568=
XM_011512866.1:c.1651_1652delinsGA	XP_011511168.1:p.Asp551=
XM_011512867.1:c.1648_1649delinsGA	XP_011511169.1:p.Asp550=
XM_011512868.1:c.1540_1541delinsGA	XP_011511170.1:p.Asp514=
XM_011512869.1:c.1813_1814delinsGA	XP_011511171.1:p.Asp605=
NM_001354663.1:c.1279_1280delinsGA	NP_001341592.1:p.Asp427=
NM_001354664.1:c.1276_1277delinsGA	NP_001341593.1:p.Asp426=
XR_001740158.2:n.2042_2043delinsGA
XR_001740159.2:n.1877_1878delinsGA
NM_001354663.2:c.1279_1280delinsGA	NP_001341592.1:p.Asp427=
NM_001354664.2:c.1276_1277delinsGA	NP_001341593.1:p.Asp426=
NM_130831.3:c.1540_1541delinsGA	NP_570844.1:p.Asp514=
NM_130832.3:c.1594_1595delinsGA	NP_570845.1:p.Asp532=
NM_130834.3:c.1702_1703delinsGA	NP_570847.2:p.Asp568=
NM_130836.3:c.1759_1760delinsGA	NP_570849.2:p.Asp587=
NM_015560.3:c.1648_1649delinsGA	NP_056375.2:p.Asp550=
NM_130833.3:c.1651_1652delinsGA	NP_570846.1:p.Asp551=
NM_130835.3:c.1705_1706delinsGA	NP_570848.1:p.Asp569=
NM_130837.3:c.1813_1814delinsGA MANE Select	NP_570850.2:p.Asp605=