Canonical Allele Identifier: CA2759949428

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647149_193647151dup , CM000665.2:g.193647149_193647151dup	GRCh38
NC_000003.11:g.193364938_193364940dup , CM000665.1:g.193364938_193364940dup	GRCh37
NC_000003.10:g.194847632_194847634dup	NCBI36
NG_011605.1:g.59006_59008dup , LRG_337:g.59006_59008dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1839_1841dup MANE Select	ENSP00000355324.2:p.Ser614_Val615insSer
ENST00000361828.7:c.1674_1676dup	ENSP00000354429.3:p.Ser559_Val560insSer
ENST00000361908.8:c.1785_1787dup	ENSP00000354681.3:p.Ser596_Val597insSer
ENST00000392436.7:c.1674_1676dup	ENSP00000376231.3:p.Ser559_Val560insSer
ENST00000392437.6:c.1728_1730dup	ENSP00000376232.2:p.Ser577_Val578insSer
ENST00000642289.1:c.1613_1615dup
ENST00000642445.1:c.1674_1676dup	ENSP00000495535.1:p.Ser559_Val560insSer
ENST00000642593.1:c.1674_1676dup	ENSP00000494273.1:p.Ser559_Val560insSer
ENST00000643329.1:c.1356_1358dup	ENSP00000493673.1:p.Ser453_Val454insSer
ENST00000643737.1:c.*1755_*1757dup	ENSP00000494210.1:n.*1755_*1757dup
ENST00000644595.1:c.1674_1676dup	ENSP00000494121.1:p.Ser559_Val560insSer
ENST00000644629.1:c.1261_1263dup
ENST00000644841.1:c.*158_*160dup	ENSP00000493988.1:n.*158_*160dup
ENST00000644959.1:c.1643_1645dup
ENST00000645553.1:c.1689_1691dup	ENSP00000494725.1:p.Ser564_Val565insSer
ENST00000646085.1:c.*1152_*1154dup	ENSP00000494509.1:n.*1152_*1154dup
ENST00000646277.1:c.*275_*277dup	ENSP00000495289.1:n.*275_*277dup
ENST00000646544.1:c.662_664dup
ENST00000646699.1:c.1613_1615dup
ENST00000646793.1:c.1566_1568dup	ENSP00000494512.1:p.Ser523_Val524insSer
ENST00000361150.6:c.1677_1679dup	ENSP00000354781.2:p.Ser560_Val561insSer
ENST00000361510.6:c.1839_1841dup	ENSP00000355324.2:p.Ser614_Val615insSer
ENST00000361715.6:c.1731_1733dup	ENSP00000355311.2:p.Ser578_Val579insSer
ENST00000361828.6:c.1728_1730dup	ENSP00000354429.2:p.Ser577_Val578insSer
ENST00000361908.7:c.1785_1787dup	ENSP00000354681.3:p.Ser596_Val597insSer
ENST00000392438.7:c.1674_1676dup	ENSP00000376233.3:p.Ser559_Val560insSer
ENST00000483516.1:n.172_174dup
NM_015560.2:c.1674_1676dup , LRG_337t1:c.1674_1676dup	NP_056375.2:p.Ser559_Val560insSer
NM_130831.2:c.1566_1568dup	NP_570844.1:p.Ser523_Val524insSer
NM_130832.2:c.1620_1622dup	NP_570845.1:p.Ser541_Val542insSer
NM_130833.2:c.1677_1679dup	NP_570846.1:p.Ser560_Val561insSer
NM_130834.2:c.1728_1730dup	NP_570847.2:p.Ser577_Val578insSer
NM_130835.2:c.1731_1733dup	NP_570848.1:p.Ser578_Val579insSer
NM_130836.2:c.1785_1787dup	NP_570849.2:p.Ser596_Val597insSer
NM_130837.2:c.1839_1841dup , LRG_337t2:c.1839_1841dup	NP_570850.2:p.Ser614_Val615insSer
XM_011512863.1:c.1839_1841dup	XP_011511165.1:p.Ser614_Val615insSer
XM_011512864.1:c.1785_1787dup	XP_011511166.1:p.Ser596_Val597insSer
XM_011512865.1:c.1728_1730dup	XP_011511167.1:p.Ser577_Val578insSer
XM_011512866.1:c.1677_1679dup	XP_011511168.1:p.Ser560_Val561insSer
XM_011512867.1:c.1674_1676dup	XP_011511169.1:p.Ser559_Val560insSer
XM_011512868.1:c.1566_1568dup	XP_011511170.1:p.Ser523_Val524insSer
XM_011512869.1:c.1839_1841dup	XP_011511171.1:p.Ser614_Val615insSer
NM_001354663.1:c.1305_1307dup	NP_001341592.1:p.Ser436_Val437insSer
NM_001354664.1:c.1302_1304dup	NP_001341593.1:p.Ser435_Val436insSer
XR_001740158.2:n.2068_2070dup
XR_001740159.2:n.1903_1905dup
NM_001354663.2:c.1305_1307dup	NP_001341592.1:p.Ser436_Val437insSer
NM_001354664.2:c.1302_1304dup	NP_001341593.1:p.Ser435_Val436insSer
NM_130831.3:c.1566_1568dup	NP_570844.1:p.Ser523_Val524insSer
NM_130832.3:c.1620_1622dup	NP_570845.1:p.Ser541_Val542insSer
NM_130834.3:c.1728_1730dup	NP_570847.2:p.Ser577_Val578insSer
NM_130836.3:c.1785_1787dup	NP_570849.2:p.Ser596_Val597insSer
NM_015560.3:c.1674_1676dup	NP_056375.2:p.Ser559_Val560insSer
NM_130833.3:c.1677_1679dup	NP_570846.1:p.Ser560_Val561insSer
NM_130835.3:c.1731_1733dup	NP_570848.1:p.Ser578_Val579insSer
NM_130837.3:c.1839_1841dup MANE Select	NP_570850.2:p.Ser614_Val615insSer