Canonical Allele Identifier: CA2669103118

Gene: OPA1

Linked Data

• gnomAD v4: 3-193643013-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643018del , CM000665.2:g.193643018del	GRCh38
NC_000003.11:g.193360807del , CM000665.1:g.193360807del	GRCh37
NC_000003.10:g.194843501del	NCBI36
NG_011605.1:g.54875del , LRG_337:g.54875del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1274del MANE Select	ENSP00000355324.2:p.Asn425MetfsTer2
ENST00000361828.7:c.1109del	ENSP00000354429.3:p.Asn370MetfsTer2
ENST00000361908.8:c.1220del	ENSP00000354681.3:p.Asn407MetfsTer2
ENST00000392436.7:c.1109del	ENSP00000376231.3:p.Asn370MetfsTer2
ENST00000392437.6:c.1163del	ENSP00000376232.2:p.Asn388MetfsTer2
ENST00000642289.1:c.1080-355del
ENST00000642445.1:c.1109del	ENSP00000495535.1:p.Asn370MetfsTer2
ENST00000642593.1:c.1109del	ENSP00000494273.1:p.Asn370MetfsTer2
ENST00000643329.1:c.791del	ENSP00000493673.1:p.Asn264MetfsTer2
ENST00000643737.1:c.*1190del	ENSP00000494210.1:n.*1190del
ENST00000644595.1:c.1109del	ENSP00000494121.1:p.Asn370MetfsTer2
ENST00000644629.1:c.769del
ENST00000644841.1:c.737del	ENSP00000493988.1:p.Asn246MetfsTer2
ENST00000644959.1:c.1078del
ENST00000645553.1:c.1124del	ENSP00000494725.1:p.Asn375MetfsTer2
ENST00000646085.1:c.*587del	ENSP00000494509.1:n.*587del
ENST00000646277.1:c.1274del	ENSP00000495289.1:p.Asn425MetfsTer2
ENST00000646544.1:c.128+173del
ENST00000646699.1:c.1080-355del
ENST00000646793.1:c.1001del	ENSP00000494512.1:p.Asn334MetfsTer2
ENST00000361150.6:c.1112del	ENSP00000354781.2:p.Asn371MetfsTer2
ENST00000361510.6:c.1274del	ENSP00000355324.2:p.Asn425MetfsTer2
ENST00000361715.6:c.1166del	ENSP00000355311.2:p.Asn389MetfsTer2
ENST00000361828.6:c.1163del	ENSP00000354429.2:p.Asn388MetfsTer2
ENST00000361908.7:c.1220del	ENSP00000354681.3:p.Asn407MetfsTer2
ENST00000392438.7:c.1109del	ENSP00000376233.3:p.Asn370MetfsTer2
ENST00000475899.1:n.305del
NM_015560.2:c.1109del , LRG_337t1:c.1109del	NP_056375.2:p.Asn370MetfsTer2
NM_130831.2:c.1001del	NP_570844.1:p.Asn334MetfsTer2
NM_130832.2:c.1055del	NP_570845.1:p.Asn352MetfsTer2
NM_130833.2:c.1112del	NP_570846.1:p.Asn371MetfsTer2
NM_130834.2:c.1163del	NP_570847.2:p.Asn388MetfsTer2
NM_130835.2:c.1166del	NP_570848.1:p.Asn389MetfsTer2
NM_130836.2:c.1220del	NP_570849.2:p.Asn407MetfsTer2
NM_130837.2:c.1274del , LRG_337t2:c.1274del	NP_570850.2:p.Asn425MetfsTer2
XM_011512863.1:c.1274del	XP_011511165.1:p.Asn425MetfsTer2
XM_011512864.1:c.1220del	XP_011511166.1:p.Asn407MetfsTer2
XM_011512865.1:c.1163del	XP_011511167.1:p.Asn388MetfsTer2
XM_011512866.1:c.1112del	XP_011511168.1:p.Asn371MetfsTer2
XM_011512867.1:c.1109del	XP_011511169.1:p.Asn370MetfsTer2
XM_011512868.1:c.1001del	XP_011511170.1:p.Asn334MetfsTer2
XM_011512869.1:c.1274del	XP_011511171.1:p.Asn425MetfsTer2
NM_001354663.1:c.740del	NP_001341592.1:p.Asn247MetfsTer2
NM_001354664.1:c.737del	NP_001341593.1:p.Asn246MetfsTer2
XR_001740158.2:n.1503del
XR_001740159.2:n.1338del
NM_001354663.2:c.740del	NP_001341592.1:p.Asn247MetfsTer2
NM_001354664.2:c.737del	NP_001341593.1:p.Asn246MetfsTer2
NM_130831.3:c.1001del	NP_570844.1:p.Asn334MetfsTer2
NM_130832.3:c.1055del	NP_570845.1:p.Asn352MetfsTer2
NM_130834.3:c.1163del	NP_570847.2:p.Asn388MetfsTer2
NM_130836.3:c.1220del	NP_570849.2:p.Asn407MetfsTer2
NM_015560.3:c.1109del	NP_056375.2:p.Asn370MetfsTer2
NM_130833.3:c.1112del	NP_570846.1:p.Asn371MetfsTer2
NM_130835.3:c.1166del	NP_570848.1:p.Asn389MetfsTer2
NM_130837.3:c.1274del MANE Select	NP_570850.2:p.Asn425MetfsTer2