Canonical Allele Identifier: CA2669105965

Gene: OPA1

Linked Data

• gnomAD v4: 3-193647134-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647138del , CM000665.2:g.193647138del	GRCh38
NC_000003.11:g.193364927del , CM000665.1:g.193364927del	GRCh37
NC_000003.10:g.194847621del	NCBI36
NG_011605.1:g.58995del , LRG_337:g.58995del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1828del MANE Select	ENSP00000355324.2:p.Met610TrpfsTer?
ENST00000361828.7:c.1663del	ENSP00000354429.3:p.Met555TrpfsTer?
ENST00000361908.8:c.1774del	ENSP00000354681.3:p.Met592TrpfsTer?
ENST00000392436.7:c.1663del	ENSP00000376231.3:p.Met555TrpfsTer?
ENST00000392437.6:c.1717del	ENSP00000376232.2:p.Met573TrpfsTer?
ENST00000642289.1:c.1602del
ENST00000642445.1:c.1663del	ENSP00000495535.1:p.Met555TrpfsTer?
ENST00000642593.1:c.1663del	ENSP00000494273.1:p.Met555TrpfsTer?
ENST00000643329.1:c.1345del	ENSP00000493673.1:p.Met449TrpfsTer?
ENST00000643737.1:c.*1744del	ENSP00000494210.1:n.*1744del
ENST00000644595.1:c.1663del	ENSP00000494121.1:p.Met555TrpfsTer?
ENST00000644629.1:c.1250del
ENST00000644841.1:c.*147del	ENSP00000493988.1:n.*147del
ENST00000644959.1:c.1632del
ENST00000645553.1:c.1678del	ENSP00000494725.1:p.Met560TrpfsTer?
ENST00000646085.1:c.*1141del	ENSP00000494509.1:n.*1141del
ENST00000646277.1:c.*264del	ENSP00000495289.1:n.*264del
ENST00000646544.1:c.651del
ENST00000646699.1:c.1602del
ENST00000646793.1:c.1555del	ENSP00000494512.1:p.Met519TrpfsTer?
ENST00000361150.6:c.1666del	ENSP00000354781.2:p.Met556TrpfsTer?
ENST00000361510.6:c.1828del	ENSP00000355324.2:p.Met610TrpfsTer?
ENST00000361715.6:c.1720del	ENSP00000355311.2:p.Met574TrpfsTer?
ENST00000361828.6:c.1717del	ENSP00000354429.2:p.Met573TrpfsTer?
ENST00000361908.7:c.1774del	ENSP00000354681.3:p.Met592TrpfsTer?
ENST00000392438.7:c.1663del	ENSP00000376233.3:p.Met555TrpfsTer?
ENST00000483516.1:n.161del
NM_015560.2:c.1663del , LRG_337t1:c.1663del	NP_056375.2:p.Met555TrpfsTer?
NM_130831.2:c.1555del	NP_570844.1:p.Met519TrpfsTer?
NM_130832.2:c.1609del	NP_570845.1:p.Met537TrpfsTer?
NM_130833.2:c.1666del	NP_570846.1:p.Met556TrpfsTer?
NM_130834.2:c.1717del	NP_570847.2:p.Met573TrpfsTer?
NM_130835.2:c.1720del	NP_570848.1:p.Met574TrpfsTer?
NM_130836.2:c.1774del	NP_570849.2:p.Met592TrpfsTer?
NM_130837.2:c.1828del , LRG_337t2:c.1828del	NP_570850.2:p.Met610TrpfsTer?
XM_011512863.1:c.1828del	XP_011511165.1:p.Met610TrpfsTer?
XM_011512864.1:c.1774del	XP_011511166.1:p.Met592TrpfsTer?
XM_011512865.1:c.1717del	XP_011511167.1:p.Met573TrpfsTer?
XM_011512866.1:c.1666del	XP_011511168.1:p.Met556TrpfsTer?
XM_011512867.1:c.1663del	XP_011511169.1:p.Met555TrpfsTer?
XM_011512868.1:c.1555del	XP_011511170.1:p.Met519TrpfsTer?
XM_011512869.1:c.1828del	XP_011511171.1:p.Met610TrpfsTer?
NM_001354663.1:c.1294del	NP_001341592.1:p.Met432TrpfsTer?
NM_001354664.1:c.1291del	NP_001341593.1:p.Met431TrpfsTer?
XR_001740158.2:n.2057del
XR_001740159.2:n.1892del
NM_001354663.2:c.1294del	NP_001341592.1:p.Met432TrpfsTer?
NM_001354664.2:c.1291del	NP_001341593.1:p.Met431TrpfsTer?
NM_130831.3:c.1555del	NP_570844.1:p.Met519TrpfsTer?
NM_130832.3:c.1609del	NP_570845.1:p.Met537TrpfsTer?
NM_130834.3:c.1717del	NP_570847.2:p.Met573TrpfsTer?
NM_130836.3:c.1774del	NP_570849.2:p.Met592TrpfsTer?
NM_015560.3:c.1663del	NP_056375.2:p.Met555TrpfsTer?
NM_130833.3:c.1666del	NP_570846.1:p.Met556TrpfsTer?
NM_130835.3:c.1720del	NP_570848.1:p.Met574TrpfsTer?
NM_130837.3:c.1828del MANE Select	NP_570850.2:p.Met610TrpfsTer?