Canonical Allele Identifier: CA2759784

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2734624
• ClinVar RCV Id: RCV003555132
• dbSNP Id: rs577168770
• ExAC: 3:193385015 GAGA / G
• gnomAD v2: 3-193385015-GAGA-G
• gnomAD v3: 3-193667226-GAGA-G
• gnomAD v4: 3-193667226-GAGA-G
• MyVariant Identifiers: chr3:g.193385016_193385018del (hg19) ; chr3:g.193667227_193667229del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667233_193667235del , CM000665.2:g.193667233_193667235del	GRCh38
NC_000003.11:g.193385022_193385024del , CM000665.1:g.193385022_193385024del	GRCh37
NC_000003.10:g.194867716_194867718del	NCBI36
NG_011605.1:g.79090_79092del , LRG_337:g.79090_79092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2936_2938del MANE Select	ENSP00000355324.2:p.Lys979del
ENST00000361828.7:c.2771_2773del	ENSP00000354429.3:p.Lys924del
ENST00000361908.8:c.2882_2884del	ENSP00000354681.3:p.Lys961del
ENST00000392436.7:c.2771_2773del	ENSP00000376231.3:p.Lys924del
ENST00000392437.6:c.2825_2827del	ENSP00000376232.2:p.Lys942del
ENST00000642289.1:c.2710_2712del
ENST00000642445.1:c.2771_2773del	ENSP00000495535.1:p.Lys924del
ENST00000642593.1:c.*996_*998del	ENSP00000494273.1:n.*996_*998del
ENST00000643329.1:c.2453_2455del	ENSP00000493673.1:p.Lys818del
ENST00000643737.1:c.*2852_*2854del	ENSP00000494210.1:n.*2852_*2854del
ENST00000644595.1:c.2771_2773del	ENSP00000494121.1:p.Lys924del
ENST00000644629.1:c.2358_2360del
ENST00000644841.1:c.*1255_*1257del	ENSP00000493988.1:n.*1255_*1257del
ENST00000644959.1:c.2765_2767del
ENST00000645553.1:c.2786_2788del	ENSP00000494725.1:p.Lys929del
ENST00000646085.1:c.*2249_*2251del	ENSP00000494509.1:n.*2249_*2251del
ENST00000646277.1:c.*1372_*1374del	ENSP00000495289.1:n.*1372_*1374del
ENST00000646544.1:c.1759_1761del
ENST00000646699.1:c.2710_2712del
ENST00000646793.1:c.2663_2665del	ENSP00000494512.1:p.Lys888del
ENST00000361150.6:c.2774_2776del	ENSP00000354781.2:p.Lys925del
ENST00000361510.6:c.2936_2938del	ENSP00000355324.2:p.Lys979del
ENST00000361715.6:c.2828_2830del	ENSP00000355311.2:p.Lys943del
ENST00000361828.6:c.2825_2827del	ENSP00000354429.2:p.Lys942del
ENST00000361908.7:c.2882_2884del	ENSP00000354681.3:p.Lys961del
ENST00000392438.7:c.2771_2773del	ENSP00000376233.3:p.Lys924del
ENST00000429164.1:c.58_60del
ENST00000445863.1:c.347_349del	ENSP00000398358.1:p.Lys116del
NM_015560.2:c.2771_2773del , LRG_337t1:c.2771_2773del	NP_056375.2:p.Lys924del
NM_130831.2:c.2663_2665del	NP_570844.1:p.Lys888del
NM_130832.2:c.2717_2719del	NP_570845.1:p.Lys906del
NM_130833.2:c.2774_2776del	NP_570846.1:p.Lys925del
NM_130834.2:c.2825_2827del	NP_570847.2:p.Lys942del
NM_130835.2:c.2828_2830del	NP_570848.1:p.Lys943del
NM_130836.2:c.2882_2884del	NP_570849.2:p.Lys961del
NM_130837.2:c.2936_2938del , LRG_337t2:c.2936_2938del	NP_570850.2:p.Lys979del
XM_011512863.1:c.2936_2938del	XP_011511165.1:p.Lys979del
XM_011512864.1:c.2882_2884del	XP_011511166.1:p.Lys961del
XM_011512865.1:c.2825_2827del	XP_011511167.1:p.Lys942del
XM_011512866.1:c.2774_2776del	XP_011511168.1:p.Lys925del
XM_011512867.1:c.2771_2773del	XP_011511169.1:p.Lys924del
XM_011512868.1:c.2663_2665del	XP_011511170.1:p.Lys888del
XR_924835.1:n.582+1691_582+1693del
NM_001354663.1:c.2402_2404del	NP_001341592.1:p.Lys801del
NM_001354664.1:c.2399_2401del	NP_001341593.1:p.Lys800del
XR_001740158.2:n.3190_3192del
XR_001740159.2:n.3025_3027del
XR_001741072.1:n.600+1691_600+1693del
XR_001741074.1:n.475+3579_475+3581del
XR_924835.2:n.600+1691_600+1693del
NM_001354663.2:c.2402_2404del	NP_001341592.1:p.Lys801del
NM_001354664.2:c.2399_2401del	NP_001341593.1:p.Lys800del
NM_130831.3:c.2663_2665del	NP_570844.1:p.Lys888del
NM_130832.3:c.2717_2719del	NP_570845.1:p.Lys906del
NM_130834.3:c.2825_2827del	NP_570847.2:p.Lys942del
NM_130836.3:c.2882_2884del	NP_570849.2:p.Lys961del
NM_015560.3:c.2771_2773del	NP_056375.2:p.Lys924del
NM_130833.3:c.2774_2776del	NP_570846.1:p.Lys925del
NM_130835.3:c.2828_2830del	NP_570848.1:p.Lys943del
NM_130837.3:c.2936_2938del MANE Select	NP_570850.2:p.Lys979del