Canonical Allele Identifier: CA1430250711

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647142_193647145delinsTACG , CM000665.2:g.193647142_193647145delinsTACG	GRCh38
NC_000003.11:g.193364931_193364934delinsTACG , CM000665.1:g.193364931_193364934delinsTACG	GRCh37
NC_000003.10:g.194847625_194847628delinsTACG	NCBI36
NG_011605.1:g.58999_59002delinsTACG , LRG_337:g.58999_59002delinsTACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1832_1835delinsTACG MANE Select	ENSP00000355324.2:p.Val611=
ENST00000361828.7:c.1667_1670delinsTACG	ENSP00000354429.3:p.Val556=
ENST00000361908.8:c.1778_1781delinsTACG	ENSP00000354681.3:p.Val593=
ENST00000392436.7:c.1667_1670delinsTACG	ENSP00000376231.3:p.Val556=
ENST00000392437.6:c.1721_1724delinsTACG	ENSP00000376232.2:p.Val574=
ENST00000642289.1:c.1606_1609delinsTACG
ENST00000642445.1:c.1667_1670delinsTACG	ENSP00000495535.1:p.Val556=
ENST00000642593.1:c.1667_1670delinsTACG	ENSP00000494273.1:p.Val556=
ENST00000643329.1:c.1349_1352delinsTACG	ENSP00000493673.1:p.Val450=
ENST00000643737.1:c.*1748_*1751delinsTACG	ENSP00000494210.1:n.*1748_*1751delinsTACG
ENST00000644595.1:c.1667_1670delinsTACG	ENSP00000494121.1:p.Val556=
ENST00000644629.1:c.1254_1257delinsTACG
ENST00000644841.1:c.*151_*154delinsTACG	ENSP00000493988.1:n.*151_*154delinsTACG
ENST00000644959.1:c.1636_1639delinsTACG
ENST00000645553.1:c.1682_1685delinsTACG	ENSP00000494725.1:p.Val561=
ENST00000646085.1:c.*1145_*1148delinsTACG	ENSP00000494509.1:n.*1145_*1148delinsTACG
ENST00000646277.1:c.*268_*271delinsTACG	ENSP00000495289.1:n.*268_*271delinsTACG
ENST00000646544.1:c.655_658delinsTACG
ENST00000646699.1:c.1606_1609delinsTACG
ENST00000646793.1:c.1559_1562delinsTACG	ENSP00000494512.1:p.Val520=
ENST00000361150.6:c.1670_1673delinsTACG	ENSP00000354781.2:p.Val557=
ENST00000361510.6:c.1832_1835delinsTACG	ENSP00000355324.2:p.Val611=
ENST00000361715.6:c.1724_1727delinsTACG	ENSP00000355311.2:p.Val575=
ENST00000361828.6:c.1721_1724delinsTACG	ENSP00000354429.2:p.Val574=
ENST00000361908.7:c.1778_1781delinsTACG	ENSP00000354681.3:p.Val593=
ENST00000392438.7:c.1667_1670delinsTACG	ENSP00000376233.3:p.Val556=
ENST00000483516.1:n.165_168delinsTACG
NM_015560.2:c.1667_1670delinsTACG , LRG_337t1:c.1667_1670delinsTACG	NP_056375.2:p.Val556=
NM_130831.2:c.1559_1562delinsTACG	NP_570844.1:p.Val520=
NM_130832.2:c.1613_1616delinsTACG	NP_570845.1:p.Val538=
NM_130833.2:c.1670_1673delinsTACG	NP_570846.1:p.Val557=
NM_130834.2:c.1721_1724delinsTACG	NP_570847.2:p.Val574=
NM_130835.2:c.1724_1727delinsTACG	NP_570848.1:p.Val575=
NM_130836.2:c.1778_1781delinsTACG	NP_570849.2:p.Val593=
NM_130837.2:c.1832_1835delinsTACG , LRG_337t2:c.1832_1835delinsTACG	NP_570850.2:p.Val611=
XM_011512863.1:c.1832_1835delinsTACG	XP_011511165.1:p.Val611=
XM_011512864.1:c.1778_1781delinsTACG	XP_011511166.1:p.Val593=
XM_011512865.1:c.1721_1724delinsTACG	XP_011511167.1:p.Val574=
XM_011512866.1:c.1670_1673delinsTACG	XP_011511168.1:p.Val557=
XM_011512867.1:c.1667_1670delinsTACG	XP_011511169.1:p.Val556=
XM_011512868.1:c.1559_1562delinsTACG	XP_011511170.1:p.Val520=
XM_011512869.1:c.1832_1835delinsTACG	XP_011511171.1:p.Val611=
NM_001354663.1:c.1298_1301delinsTACG	NP_001341592.1:p.Val433=
NM_001354664.1:c.1295_1298delinsTACG	NP_001341593.1:p.Val432=
XR_001740158.2:n.2061_2064delinsTACG
XR_001740159.2:n.1896_1899delinsTACG
NM_001354663.2:c.1298_1301delinsTACG	NP_001341592.1:p.Val433=
NM_001354664.2:c.1295_1298delinsTACG	NP_001341593.1:p.Val432=
NM_130831.3:c.1559_1562delinsTACG	NP_570844.1:p.Val520=
NM_130832.3:c.1613_1616delinsTACG	NP_570845.1:p.Val538=
NM_130834.3:c.1721_1724delinsTACG	NP_570847.2:p.Val574=
NM_130836.3:c.1778_1781delinsTACG	NP_570849.2:p.Val593=
NM_015560.3:c.1667_1670delinsTACG	NP_056375.2:p.Val556=
NM_130833.3:c.1670_1673delinsTACG	NP_570846.1:p.Val557=
NM_130835.3:c.1724_1727delinsTACG	NP_570848.1:p.Val575=
NM_130837.3:c.1832_1835delinsTACG MANE Select	NP_570850.2:p.Val611=