Canonical Allele Identifier: CA557639380

Gene: MTRR

Linked Data

• dbSNP Id: rs1317737721
• gnomAD v2: 5-7891484-GAAC-G
• gnomAD v4: 5-7891371-GAAC-G
• MyVariant Identifiers: chr5:g.7891485_7891487del (hg19) ; chr5:g.7891372_7891374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891373_7891375del , CM000667.2:g.7891373_7891375del	GRCh38
NC_000005.9:g.7891486_7891488del , CM000667.1:g.7891486_7891488del	GRCh37
NC_000005.8:g.7944486_7944488del	NCBI36
NG_008856.1:g.27270_27272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1329_1331del MANE Select	ENSP00000402510.2:p.Glu443_His444delinsAsp
ENST00000264668.6:c.1410_1412del	ENSP00000264668.2:p.Glu470_His471delinsAsp
ENST00000440940.6:c.1329_1331del	ENSP00000402510.2:p.Glu443_His444delinsAsp
ENST00000507202.1:n.5_7del
ENST00000507414.1:n.69_71del
ENST00000508101.5:n.569_571del
ENST00000510525.5:c.1265_1267del
ENST00000511461.5:c.1242_1244del
ENST00000512311.5:n.308_310del
ENST00000513439.5:c.*1036_*1038del	ENSP00000426710.1:n.*1036_*1038del
NM_002454.2:c.1329_1331del	NP_002445.2:p.Glu443_His444delinsAsp
NM_024010.2:c.1410_1412del	NP_076915.2:p.Glu470_His471delinsAsp
XM_011514043.1:c.1410_1412del	XP_011512345.1:p.Glu470_His471delinsAsp
XM_011514044.1:c.1329_1331del	XP_011512346.1:p.Glu443_His444delinsAsp
XR_241702.1:n.1343_1345del
XR_241703.1:n.1336_1338del
XR_925614.1:n.1455_1457del
XR_925615.1:n.1607_1609del
NM_001364440.1:c.1329_1331del	NP_001351369.1:p.Glu443_His444delinsAsp
NM_001364441.1:c.1329_1331del	NP_001351370.1:p.Glu443_His444delinsAsp
NM_001364442.1:c.1329_1331del	NP_001351371.1:p.Glu443_His444delinsAsp
NM_024010.3:c.1329_1331del	NP_076915.3:p.Glu443_His444delinsAsp
NR_134480.1:n.1452_1454del
NR_134481.1:n.1377_1379del
NR_134482.1:n.1312_1314del
NR_157168.1:n.1382_1384del
NR_157169.1:n.1242_1244del
NR_157170.1:n.1408_1410del
NR_157171.1:n.1265_1267del
NR_157172.1:n.1179_1181del
NR_157173.1:n.1419_1421del
NR_157174.1:n.1420_1422del
NR_157175.1:n.1574_1576del
NR_157176.1:n.1737_1739del
NR_157177.1:n.1417_1419del
NR_157178.1:n.1445_1447del
XM_024446063.1:c.1374_1376del	XP_024301831.1:p.Glu458_His459delinsAsp
XM_024446064.1:c.1329_1331del	XP_024301832.1:p.Glu443_His444delinsAsp
XR_001742071.1:n.1607_1609del
XR_001742072.1:n.1584_1586del
XR_001742074.1:n.1343_1345del
XR_001742075.1:n.1495_1497del
XR_001742076.1:n.1572_1574del
XR_001742077.1:n.1595_1597del
NM_001364440.2:c.1329_1331del	NP_001351369.1:p.Glu443_His444delinsAsp
NM_001364441.2:c.1329_1331del	NP_001351370.1:p.Glu443_His444delinsAsp
NM_001364442.2:c.1329_1331del	NP_001351371.1:p.Glu443_His444delinsAsp
NM_002454.3:c.1329_1331del MANE Select	NP_002445.2:p.Glu443_His444delinsAsp
NM_024010.4:c.1329_1331del	NP_076915.3:p.Glu443_His444delinsAsp
NR_134480.2:n.1408_1410del
NR_134481.2:n.1333_1335del
NR_134482.2:n.1268_1270del
NR_157168.2:n.1382_1384del
NR_157169.2:n.1242_1244del
NR_157170.2:n.1408_1410del
NR_157171.2:n.1265_1267del
NR_157172.2:n.1179_1181del
NR_157173.2:n.1419_1421del
NR_157174.2:n.1420_1422del
NR_157175.2:n.1574_1576del
NR_157176.2:n.1737_1739del
NR_157177.2:n.1417_1419del
NR_157178.2:n.1445_1447del