Canonical Allele Identifier: CA891843448

Gene: OPA1

Linked Data

• ClinVar Variation Id: 586196
• ClinVar RCV Id: RCV000712462
• dbSNP Id: rs1560380246
• MyVariant Identifiers: chr3:g.193364933_193364935del (hg19) ; chr3:g.193647144_193647146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647144_193647146del , CM000665.2:g.193647144_193647146del	GRCh38
NC_000003.11:g.193364933_193364935del , CM000665.1:g.193364933_193364935del	GRCh37
NC_000003.10:g.194847627_194847629del	NCBI36
NG_011605.1:g.59001_59003del , LRG_337:g.59001_59003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1834_1836del MANE Select	ENSP00000355324.2:p.Arg612del
ENST00000361828.7:c.1669_1671del	ENSP00000354429.3:p.Arg557del
ENST00000361908.8:c.1780_1782del	ENSP00000354681.3:p.Arg594del
ENST00000392436.7:c.1669_1671del	ENSP00000376231.3:p.Arg557del
ENST00000392437.6:c.1723_1725del	ENSP00000376232.2:p.Arg575del
ENST00000642289.1:c.1608_1610del
ENST00000642445.1:c.1669_1671del	ENSP00000495535.1:p.Arg557del
ENST00000642593.1:c.1669_1671del	ENSP00000494273.1:p.Arg557del
ENST00000643329.1:c.1351_1353del	ENSP00000493673.1:p.Arg451del
ENST00000643737.1:c.*1750_*1752del	ENSP00000494210.1:n.*1750_*1752del
ENST00000644595.1:c.1669_1671del	ENSP00000494121.1:p.Arg557del
ENST00000644629.1:c.1256_1258del
ENST00000644841.1:c.*153_*155del	ENSP00000493988.1:n.*153_*155del
ENST00000644959.1:c.1638_1640del
ENST00000645553.1:c.1684_1686del	ENSP00000494725.1:p.Arg562del
ENST00000646085.1:c.*1147_*1149del	ENSP00000494509.1:n.*1147_*1149del
ENST00000646277.1:c.*270_*272del	ENSP00000495289.1:n.*270_*272del
ENST00000646544.1:c.657_659del
ENST00000646699.1:c.1608_1610del
ENST00000646793.1:c.1561_1563del	ENSP00000494512.1:p.Arg521del
ENST00000361150.6:c.1672_1674del	ENSP00000354781.2:p.Arg558del
ENST00000361510.6:c.1834_1836del	ENSP00000355324.2:p.Arg612del
ENST00000361715.6:c.1726_1728del	ENSP00000355311.2:p.Arg576del
ENST00000361828.6:c.1723_1725del	ENSP00000354429.2:p.Arg575del
ENST00000361908.7:c.1780_1782del	ENSP00000354681.3:p.Arg594del
ENST00000392438.7:c.1669_1671del	ENSP00000376233.3:p.Arg557del
ENST00000483516.1:n.167_169del
NM_015560.2:c.1669_1671del , LRG_337t1:c.1669_1671del	NP_056375.2:p.Arg557del
NM_130831.2:c.1561_1563del	NP_570844.1:p.Arg521del
NM_130832.2:c.1615_1617del	NP_570845.1:p.Arg539del
NM_130833.2:c.1672_1674del	NP_570846.1:p.Arg558del
NM_130834.2:c.1723_1725del	NP_570847.2:p.Arg575del
NM_130835.2:c.1726_1728del	NP_570848.1:p.Arg576del
NM_130836.2:c.1780_1782del	NP_570849.2:p.Arg594del
NM_130837.2:c.1834_1836del , LRG_337t2:c.1834_1836del	NP_570850.2:p.Arg612del
XM_011512863.1:c.1834_1836del	XP_011511165.1:p.Arg612del
XM_011512864.1:c.1780_1782del	XP_011511166.1:p.Arg594del
XM_011512865.1:c.1723_1725del	XP_011511167.1:p.Arg575del
XM_011512866.1:c.1672_1674del	XP_011511168.1:p.Arg558del
XM_011512867.1:c.1669_1671del	XP_011511169.1:p.Arg557del
XM_011512868.1:c.1561_1563del	XP_011511170.1:p.Arg521del
XM_011512869.1:c.1834_1836del	XP_011511171.1:p.Arg612del
NM_001354663.1:c.1300_1302del	NP_001341592.1:p.Arg434del
NM_001354664.1:c.1297_1299del	NP_001341593.1:p.Arg433del
XR_001740158.2:n.2063_2065del
XR_001740159.2:n.1898_1900del
NM_001354663.2:c.1300_1302del	NP_001341592.1:p.Arg434del
NM_001354664.2:c.1297_1299del	NP_001341593.1:p.Arg433del
NM_130831.3:c.1561_1563del	NP_570844.1:p.Arg521del
NM_130832.3:c.1615_1617del	NP_570845.1:p.Arg539del
NM_130834.3:c.1723_1725del	NP_570847.2:p.Arg575del
NM_130836.3:c.1780_1782del	NP_570849.2:p.Arg594del
NM_015560.3:c.1669_1671del	NP_056375.2:p.Arg557del
NM_130833.3:c.1672_1674del	NP_570846.1:p.Arg558del
NM_130835.3:c.1726_1728del	NP_570848.1:p.Arg576del
NM_130837.3:c.1834_1836del MANE Select	NP_570850.2:p.Arg612del