Canonical Allele Identifier: CA2577995242

Gene: OPA1

Linked Data

• gnomAD v4: 3-193648026-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193648030_193648032del , CM000665.2:g.193648030_193648032del	GRCh38
NC_000003.11:g.193365819_193365821del , CM000665.1:g.193365819_193365821del	GRCh37
NC_000003.10:g.194848513_194848515del	NCBI36
NG_011605.1:g.59887_59889del , LRG_337:g.59887_59889del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1871-40_1871-38del MANE Select	ENSP00000355324.2:n.1871-40_1871-38del
ENST00000361828.7:c.1706-40_1706-38del	ENSP00000354429.3:n.1706-40_1706-38del
ENST00000361908.8:c.1817-40_1817-38del	ENSP00000354681.3:n.1817-40_1817-38del
ENST00000392436.7:c.1706-40_1706-38del	ENSP00000376231.3:n.1706-40_1706-38del
ENST00000392437.6:c.1760-40_1760-38del	ENSP00000376232.2:n.1760-40_1760-38del
ENST00000642289.1:c.1645-40_1645-38del
ENST00000642445.1:c.1706-40_1706-38del	ENSP00000495535.1:n.1706-40_1706-38del
ENST00000642593.1:c.1706-765_1706-763del	ENSP00000494273.1:n.1706-765_1706-763del
ENST00000643329.1:c.1388-40_1388-38del	ENSP00000493673.1:n.1388-40_1388-38del
ENST00000643737.1:c.*1787-40_*1787-38del	ENSP00000494210.1:n.*1787-40_*1787-38del
ENST00000644595.1:c.1706-40_1706-38del	ENSP00000494121.1:n.1706-40_1706-38del
ENST00000644629.1:c.1293-40_1293-38del
ENST00000644841.1:c.*190-40_*190-38del	ENSP00000493988.1:n.*190-40_*190-38del
ENST00000644959.1:c.1675-40_1675-38del
ENST00000645553.1:c.1721-40_1721-38del	ENSP00000494725.1:n.1721-40_1721-38del
ENST00000646085.1:c.*1184-40_*1184-38del	ENSP00000494509.1:n.*1184-40_*1184-38del
ENST00000646277.1:c.*307-40_*307-38del	ENSP00000495289.1:n.*307-40_*307-38del
ENST00000646544.1:c.694-40_694-38del
ENST00000646699.1:c.1645-40_1645-38del
ENST00000646793.1:c.1598-40_1598-38del	ENSP00000494512.1:n.1598-40_1598-38del
ENST00000361150.6:c.1709-40_1709-38del	ENSP00000354781.2:n.1709-40_1709-38del
ENST00000361510.6:c.1871-40_1871-38del	ENSP00000355324.2:n.1871-40_1871-38del
ENST00000361715.6:c.1763-40_1763-38del	ENSP00000355311.2:n.1763-40_1763-38del
ENST00000361828.6:c.1760-40_1760-38del	ENSP00000354429.2:n.1760-40_1760-38del
ENST00000361908.7:c.1817-40_1817-38del	ENSP00000354681.3:n.1817-40_1817-38del
ENST00000392438.7:c.1706-40_1706-38del	ENSP00000376233.3:n.1706-40_1706-38del
ENST00000483516.1:n.204-40_204-38del
NM_015560.2:c.1706-40_1706-38del , LRG_337t1:c.1706-40_1706-38del	NP_056375.2:n.1706-40_1706-38del
NM_130831.2:c.1598-40_1598-38del	NP_570844.1:n.1598-40_1598-38del
NM_130832.2:c.1652-40_1652-38del	NP_570845.1:n.1652-40_1652-38del
NM_130833.2:c.1709-40_1709-38del	NP_570846.1:n.1709-40_1709-38del
NM_130834.2:c.1760-40_1760-38del	NP_570847.2:n.1760-40_1760-38del
NM_130835.2:c.1763-40_1763-38del	NP_570848.1:n.1763-40_1763-38del
NM_130836.2:c.1817-40_1817-38del	NP_570849.2:n.1817-40_1817-38del
NM_130837.2:c.1871-40_1871-38del , LRG_337t2:c.1871-40_1871-38del	NP_570850.2:n.1871-40_1871-38del
XM_011512863.1:c.1871-40_1871-38del	XP_011511165.1:n.1871-40_1871-38del
XM_011512864.1:c.1817-40_1817-38del	XP_011511166.1:n.1817-40_1817-38del
XM_011512865.1:c.1760-40_1760-38del	XP_011511167.1:n.1760-40_1760-38del
XM_011512866.1:c.1709-40_1709-38del	XP_011511168.1:n.1709-40_1709-38del
XM_011512867.1:c.1706-40_1706-38del	XP_011511169.1:n.1706-40_1706-38del
XM_011512868.1:c.1598-40_1598-38del	XP_011511170.1:n.1598-40_1598-38del
XM_011512869.1:c.1871-40_1871-38del	XP_011511171.1:n.1871-40_1871-38del
XR_924835.1:n.583-719_583-717del
NM_001354663.1:c.1337-40_1337-38del	NP_001341592.1:n.1337-40_1337-38del
NM_001354664.1:c.1334-40_1334-38del	NP_001341593.1:n.1334-40_1334-38del
XR_001740158.2:n.2100-40_2100-38del
XR_001740159.2:n.1935-40_1935-38del
XR_001741074.1:n.476-719_476-717del
XR_924835.2:n.601-719_601-717del
NM_001354663.2:c.1337-40_1337-38del	NP_001341592.1:n.1337-40_1337-38del
NM_001354664.2:c.1334-40_1334-38del	NP_001341593.1:n.1334-40_1334-38del
NM_130831.3:c.1598-40_1598-38del	NP_570844.1:n.1598-40_1598-38del
NM_130832.3:c.1652-40_1652-38del	NP_570845.1:n.1652-40_1652-38del
NM_130834.3:c.1760-40_1760-38del	NP_570847.2:n.1760-40_1760-38del
NM_130836.3:c.1817-40_1817-38del	NP_570849.2:n.1817-40_1817-38del
NM_015560.3:c.1706-40_1706-38del	NP_056375.2:n.1706-40_1706-38del
NM_130833.3:c.1709-40_1709-38del	NP_570846.1:n.1709-40_1709-38del
NM_130835.3:c.1763-40_1763-38del	NP_570848.1:n.1763-40_1763-38del
NM_130837.3:c.1871-40_1871-38del MANE Select	NP_570850.2:n.1871-40_1871-38del