Canonical Allele Identifier: CA548822001

Gene: OPA1

Linked Data

• dbSNP Id: rs1218655334
• gnomAD v2: 3-193361047-CGT-C
• gnomAD v3: 3-193643258-CGT-C
• gnomAD v4: 3-193643258-CGT-C
• MyVariant Identifiers: chr3:g.193361048_193361049del (hg19) ; chr3:g.193643259_193643260del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643259_193643260del , CM000665.2:g.193643259_193643260del	GRCh38
NC_000003.11:g.193361048_193361049del , CM000665.1:g.193361048_193361049del	GRCh37
NC_000003.10:g.194843742_194843743del	NCBI36
NG_011605.1:g.55116_55117del , LRG_337:g.55116_55117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1306-114_1306-113del MANE Select	ENSP00000355324.2:n.1306-114_1306-113del
ENST00000361828.7:c.1141-114_1141-113del	ENSP00000354429.3:n.1141-114_1141-113del
ENST00000361908.8:c.1252-114_1252-113del	ENSP00000354681.3:n.1252-114_1252-113del
ENST00000392436.7:c.1141-114_1141-113del	ENSP00000376231.3:n.1141-114_1141-113del
ENST00000392437.6:c.1195-114_1195-113del	ENSP00000376232.2:n.1195-114_1195-113del
ENST00000642289.1:c.1080-114_1080-113del
ENST00000642445.1:c.1141-114_1141-113del	ENSP00000495535.1:n.1141-114_1141-113del
ENST00000642593.1:c.1141-114_1141-113del	ENSP00000494273.1:n.1141-114_1141-113del
ENST00000643329.1:c.823-114_823-113del	ENSP00000493673.1:n.823-114_823-113del
ENST00000643737.1:c.*1222-114_*1222-113del	ENSP00000494210.1:n.*1222-114_*1222-113del
ENST00000644595.1:c.1141-114_1141-113del	ENSP00000494121.1:n.1141-114_1141-113del
ENST00000644629.1:c.801-114_801-113del
ENST00000644841.1:c.769-114_769-113del	ENSP00000493988.1:n.769-114_769-113del
ENST00000644959.1:c.1110-114_1110-113del
ENST00000645553.1:c.1156-114_1156-113del	ENSP00000494725.1:n.1156-114_1156-113del
ENST00000646085.1:c.*619-114_*619-113del	ENSP00000494509.1:n.*619-114_*619-113del
ENST00000646277.1:c.1306-114_1306-113del	ENSP00000495289.1:n.1306-114_1306-113del
ENST00000646544.1:c.129-114_129-113del
ENST00000646699.1:c.1080-114_1080-113del
ENST00000646793.1:c.1033-114_1033-113del	ENSP00000494512.1:n.1033-114_1033-113del
ENST00000361150.6:c.1144-114_1144-113del	ENSP00000354781.2:n.1144-114_1144-113del
ENST00000361510.6:c.1306-114_1306-113del	ENSP00000355324.2:n.1306-114_1306-113del
ENST00000361715.6:c.1198-114_1198-113del	ENSP00000355311.2:n.1198-114_1198-113del
ENST00000361828.6:c.1195-114_1195-113del	ENSP00000354429.2:n.1195-114_1195-113del
ENST00000361908.7:c.1252-114_1252-113del	ENSP00000354681.3:n.1252-114_1252-113del
ENST00000392438.7:c.1141-114_1141-113del	ENSP00000376233.3:n.1141-114_1141-113del
ENST00000475899.1:n.337-114_337-113del
NM_015560.2:c.1141-114_1141-113del , LRG_337t1:c.1141-114_1141-113del	NP_056375.2:n.1141-114_1141-113del
NM_130831.2:c.1033-114_1033-113del	NP_570844.1:n.1033-114_1033-113del
NM_130832.2:c.1087-114_1087-113del	NP_570845.1:n.1087-114_1087-113del
NM_130833.2:c.1144-114_1144-113del	NP_570846.1:n.1144-114_1144-113del
NM_130834.2:c.1195-114_1195-113del	NP_570847.2:n.1195-114_1195-113del
NM_130835.2:c.1198-114_1198-113del	NP_570848.1:n.1198-114_1198-113del
NM_130836.2:c.1252-114_1252-113del	NP_570849.2:n.1252-114_1252-113del
NM_130837.2:c.1306-114_1306-113del , LRG_337t2:c.1306-114_1306-113del	NP_570850.2:n.1306-114_1306-113del
XM_011512863.1:c.1306-114_1306-113del	XP_011511165.1:n.1306-114_1306-113del
XM_011512864.1:c.1252-114_1252-113del	XP_011511166.1:n.1252-114_1252-113del
XM_011512865.1:c.1195-114_1195-113del	XP_011511167.1:n.1195-114_1195-113del
XM_011512866.1:c.1144-114_1144-113del	XP_011511168.1:n.1144-114_1144-113del
XM_011512867.1:c.1141-114_1141-113del	XP_011511169.1:n.1141-114_1141-113del
XM_011512868.1:c.1033-114_1033-113del	XP_011511170.1:n.1033-114_1033-113del
XM_011512869.1:c.1306-114_1306-113del	XP_011511171.1:n.1306-114_1306-113del
NM_001354663.1:c.772-114_772-113del	NP_001341592.1:n.772-114_772-113del
NM_001354664.1:c.769-114_769-113del	NP_001341593.1:n.769-114_769-113del
XR_001740158.2:n.1535-114_1535-113del
XR_001740159.2:n.1370-114_1370-113del
NM_001354663.2:c.772-114_772-113del	NP_001341592.1:n.772-114_772-113del
NM_001354664.2:c.769-114_769-113del	NP_001341593.1:n.769-114_769-113del
NM_130831.3:c.1033-114_1033-113del	NP_570844.1:n.1033-114_1033-113del
NM_130832.3:c.1087-114_1087-113del	NP_570845.1:n.1087-114_1087-113del
NM_130834.3:c.1195-114_1195-113del	NP_570847.2:n.1195-114_1195-113del
NM_130836.3:c.1252-114_1252-113del	NP_570849.2:n.1252-114_1252-113del
NM_015560.3:c.1141-114_1141-113del	NP_056375.2:n.1141-114_1141-113del
NM_130833.3:c.1144-114_1144-113del	NP_570846.1:n.1144-114_1144-113del
NM_130835.3:c.1198-114_1198-113del	NP_570848.1:n.1198-114_1198-113del
NM_130837.3:c.1306-114_1306-113del MANE Select	NP_570850.2:n.1306-114_1306-113del