Canonical Allele Identifier: CA2591788626

Gene: MTRR

Linked Data

• gnomAD v3: 5-7891320-G-GTTTTT
• gnomAD v4: 5-7891320-G-GTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891322_7891323insTTTTT , CM000667.2:g.7891322_7891323insTTTTT	GRCh38
NC_000005.9:g.7891435_7891436insTTTTT , CM000667.1:g.7891435_7891436insTTTTT	GRCh37
NC_000005.8:g.7944435_7944436insTTTTT	NCBI36
NG_008856.1:g.27219_27220insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1328-50_1328-49insTTTTT MANE Select	ENSP00000402510.2:n.1328-50_1328-49insTTTTT
ENST00000264668.6:c.1409-50_1409-49insTTTTT	ENSP00000264668.2:n.1409-50_1409-49insTTTTT
ENST00000440940.6:c.1328-50_1328-49insTTTTT	ENSP00000402510.2:n.1328-50_1328-49insTTTTT
ENST00000507414.1:n.68-50_68-49insTTTTT
ENST00000508101.5:n.568-50_568-49insTTTTT
ENST00000510525.5:c.1264-50_1264-49insTTTTT
ENST00000511461.5:c.1241-50_1241-49insTTTTT
ENST00000512311.5:n.307-50_307-49insTTTTT
ENST00000513439.5:c.*1035-50_*1035-49insTTTTT	ENSP00000426710.1:n.*1035-50_*1035-49insTTTTT
NM_002454.2:c.1328-50_1328-49insTTTTT	NP_002445.2:n.1328-50_1328-49insTTTTT
NM_024010.2:c.1409-50_1409-49insTTTTT	NP_076915.2:n.1409-50_1409-49insTTTTT
XM_011514043.1:c.1409-50_1409-49insTTTTT	XP_011512345.1:n.1409-50_1409-49insTTTTT
XM_011514044.1:c.1328-50_1328-49insTTTTT	XP_011512346.1:n.1328-50_1328-49insTTTTT
XR_241702.1:n.1342-50_1342-49insTTTTT
XR_241703.1:n.1335-50_1335-49insTTTTT
XR_925614.1:n.1454-50_1454-49insTTTTT
XR_925615.1:n.1606-50_1606-49insTTTTT
NM_001364440.1:c.1328-50_1328-49insTTTTT	NP_001351369.1:n.1328-50_1328-49insTTTTT
NM_001364441.1:c.1328-50_1328-49insTTTTT	NP_001351370.1:n.1328-50_1328-49insTTTTT
NM_001364442.1:c.1328-50_1328-49insTTTTT	NP_001351371.1:n.1328-50_1328-49insTTTTT
NM_024010.3:c.1328-50_1328-49insTTTTT	NP_076915.3:n.1328-50_1328-49insTTTTT
NR_134480.1:n.1451-50_1451-49insTTTTT
NR_134481.1:n.1376-50_1376-49insTTTTT
NR_134482.1:n.1311-50_1311-49insTTTTT
NR_157168.1:n.1381-50_1381-49insTTTTT
NR_157169.1:n.1241-50_1241-49insTTTTT
NR_157170.1:n.1407-50_1407-49insTTTTT
NR_157171.1:n.1264-50_1264-49insTTTTT
NR_157172.1:n.1178-50_1178-49insTTTTT
NR_157173.1:n.1418-50_1418-49insTTTTT
NR_157174.1:n.1419-50_1419-49insTTTTT
NR_157175.1:n.1573-50_1573-49insTTTTT
NR_157176.1:n.1736-50_1736-49insTTTTT
NR_157177.1:n.1416-50_1416-49insTTTTT
NR_157178.1:n.1444-50_1444-49insTTTTT
XM_024446063.1:c.1373-50_1373-49insTTTTT	XP_024301831.1:n.1373-50_1373-49insTTTTT
XM_024446064.1:c.1328-50_1328-49insTTTTT	XP_024301832.1:n.1328-50_1328-49insTTTTT
XR_001742071.1:n.1606-50_1606-49insTTTTT
XR_001742072.1:n.1583-50_1583-49insTTTTT
XR_001742074.1:n.1342-50_1342-49insTTTTT
XR_001742075.1:n.1494-50_1494-49insTTTTT
XR_001742076.1:n.1571-50_1571-49insTTTTT
XR_001742077.1:n.1594-50_1594-49insTTTTT
NM_001364440.2:c.1328-50_1328-49insTTTTT	NP_001351369.1:n.1328-50_1328-49insTTTTT
NM_001364441.2:c.1328-50_1328-49insTTTTT	NP_001351370.1:n.1328-50_1328-49insTTTTT
NM_001364442.2:c.1328-50_1328-49insTTTTT	NP_001351371.1:n.1328-50_1328-49insTTTTT
NM_002454.3:c.1328-50_1328-49insTTTTT MANE Select	NP_002445.2:n.1328-50_1328-49insTTTTT
NM_024010.4:c.1328-50_1328-49insTTTTT	NP_076915.3:n.1328-50_1328-49insTTTTT
NR_134480.2:n.1407-50_1407-49insTTTTT
NR_134481.2:n.1332-50_1332-49insTTTTT
NR_134482.2:n.1267-50_1267-49insTTTTT
NR_157168.2:n.1381-50_1381-49insTTTTT
NR_157169.2:n.1241-50_1241-49insTTTTT
NR_157170.2:n.1407-50_1407-49insTTTTT
NR_157171.2:n.1264-50_1264-49insTTTTT
NR_157172.2:n.1178-50_1178-49insTTTTT
NR_157173.2:n.1418-50_1418-49insTTTTT
NR_157174.2:n.1419-50_1419-49insTTTTT
NR_157175.2:n.1573-50_1573-49insTTTTT
NR_157176.2:n.1736-50_1736-49insTTTTT
NR_157177.2:n.1416-50_1416-49insTTTTT
NR_157178.2:n.1444-50_1444-49insTTTTT