Canonical Allele Identifier: CA2673202843

Gene: MTRR

Linked Data

• gnomAD v4: 5-7891289-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891312_7891313insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.7891312_7891313insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.7891425_7891426insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.7891425_7891426insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.7944425_7944426insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008856.1:g.27209_27210insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000402510.2:n.1328-60_1328-59insTTT...
ENST00000264668.6:c.1409-60_1409-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000264668.2:n.1409-60_1409-59insTTT...
ENST00000440940.6:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000402510.2:n.1328-60_1328-59insTTT...
ENST00000507414.1:n.68-60_68-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000508101.5:n.568-60_568-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000510525.5:c.1264-60_1264-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000511461.5:c.1241-60_1241-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000512311.5:n.307-60_307-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000513439.5:c.*1035-60_*1035-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000426710.1:n.*1035-60_*1035-59insT...
NM_002454.2:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_002445.2:n.1328-60_1328-59insTTTTGAAAG...
NM_024010.2:c.1409-60_1409-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_076915.2:n.1409-60_1409-59insTTTTGAAAG...
XM_011514043.1:c.1409-60_1409-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	XP_011512345.1:n.1409-60_1409-59insTTTTGA...
XM_011514044.1:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	XP_011512346.1:n.1328-60_1328-59insTTTTGA...
XR_241702.1:n.1342-60_1342-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_241703.1:n.1335-60_1335-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_925614.1:n.1454-60_1454-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_925615.1:n.1606-60_1606-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NM_001364440.1:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_001351369.1:n.1328-60_1328-59insTTTTGA...
NM_001364441.1:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_001351370.1:n.1328-60_1328-59insTTTTGA...
NM_001364442.1:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_001351371.1:n.1328-60_1328-59insTTTTGA...
NM_024010.3:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_076915.3:n.1328-60_1328-59insTTTTGAAAG...
NR_134480.1:n.1451-60_1451-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_134481.1:n.1376-60_1376-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_134482.1:n.1311-60_1311-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157168.1:n.1381-60_1381-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157169.1:n.1241-60_1241-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157170.1:n.1407-60_1407-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157171.1:n.1264-60_1264-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157172.1:n.1178-60_1178-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157173.1:n.1418-60_1418-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157174.1:n.1419-60_1419-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157175.1:n.1573-60_1573-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157176.1:n.1736-60_1736-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157177.1:n.1416-60_1416-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157178.1:n.1444-60_1444-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XM_024446063.1:c.1373-60_1373-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	XP_024301831.1:n.1373-60_1373-59insTTTTGA...
XM_024446064.1:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	XP_024301832.1:n.1328-60_1328-59insTTTTGA...
XR_001742071.1:n.1606-60_1606-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_001742072.1:n.1583-60_1583-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_001742074.1:n.1342-60_1342-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_001742075.1:n.1494-60_1494-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_001742076.1:n.1571-60_1571-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
XR_001742077.1:n.1594-60_1594-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NM_001364440.2:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_001351369.1:n.1328-60_1328-59insTTTTGA...
NM_001364441.2:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_001351370.1:n.1328-60_1328-59insTTTTGA...
NM_001364442.2:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_001351371.1:n.1328-60_1328-59insTTTTGA...
NM_002454.3:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_002445.2:n.1328-60_1328-59insTTTTGAAAG...
NM_024010.4:c.1328-60_1328-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT	NP_076915.3:n.1328-60_1328-59insTTTTGAAAG...
NR_134480.2:n.1407-60_1407-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_134481.2:n.1332-60_1332-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_134482.2:n.1267-60_1267-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157168.2:n.1381-60_1381-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157169.2:n.1241-60_1241-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157170.2:n.1407-60_1407-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157171.2:n.1264-60_1264-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157172.2:n.1178-60_1178-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157173.2:n.1418-60_1418-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157174.2:n.1419-60_1419-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157175.2:n.1573-60_1573-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157176.2:n.1736-60_1736-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157177.2:n.1416-60_1416-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT
NR_157178.2:n.1444-60_1444-59insTTTTGAAAGTGTTTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTTTTTTTT