Canonical Allele Identifier: CA1072984036

Gene: MTRR

Linked Data

• gnomAD v3: 5-7891313-AGGTAAGG-A
• gnomAD v4: 5-7891313-AGGTAAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891314_7891320del , CM000667.2:g.7891314_7891320del	GRCh38
NC_000005.9:g.7891427_7891433del , CM000667.1:g.7891427_7891433del	GRCh37
NC_000005.8:g.7944427_7944433del	NCBI36
NG_008856.1:g.27211_27217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1328-58_1328-52del MANE Select	ENSP00000402510.2:n.1328-58_1328-52del
ENST00000264668.6:c.1409-58_1409-52del	ENSP00000264668.2:n.1409-58_1409-52del
ENST00000440940.6:c.1328-58_1328-52del	ENSP00000402510.2:n.1328-58_1328-52del
ENST00000507414.1:n.68-58_68-52del
ENST00000508101.5:n.568-58_568-52del
ENST00000510525.5:c.1264-58_1264-52del
ENST00000511461.5:c.1241-58_1241-52del
ENST00000512311.5:n.307-58_307-52del
ENST00000513439.5:c.*1035-58_*1035-52del	ENSP00000426710.1:n.*1035-58_*1035-52del
NM_002454.2:c.1328-58_1328-52del	NP_002445.2:n.1328-58_1328-52del
NM_024010.2:c.1409-58_1409-52del	NP_076915.2:n.1409-58_1409-52del
XM_011514043.1:c.1409-58_1409-52del	XP_011512345.1:n.1409-58_1409-52del
XM_011514044.1:c.1328-58_1328-52del	XP_011512346.1:n.1328-58_1328-52del
XR_241702.1:n.1342-58_1342-52del
XR_241703.1:n.1335-58_1335-52del
XR_925614.1:n.1454-58_1454-52del
XR_925615.1:n.1606-58_1606-52del
NM_001364440.1:c.1328-58_1328-52del	NP_001351369.1:n.1328-58_1328-52del
NM_001364441.1:c.1328-58_1328-52del	NP_001351370.1:n.1328-58_1328-52del
NM_001364442.1:c.1328-58_1328-52del	NP_001351371.1:n.1328-58_1328-52del
NM_024010.3:c.1328-58_1328-52del	NP_076915.3:n.1328-58_1328-52del
NR_134480.1:n.1451-58_1451-52del
NR_134481.1:n.1376-58_1376-52del
NR_134482.1:n.1311-58_1311-52del
NR_157168.1:n.1381-58_1381-52del
NR_157169.1:n.1241-58_1241-52del
NR_157170.1:n.1407-58_1407-52del
NR_157171.1:n.1264-58_1264-52del
NR_157172.1:n.1178-58_1178-52del
NR_157173.1:n.1418-58_1418-52del
NR_157174.1:n.1419-58_1419-52del
NR_157175.1:n.1573-58_1573-52del
NR_157176.1:n.1736-58_1736-52del
NR_157177.1:n.1416-58_1416-52del
NR_157178.1:n.1444-58_1444-52del
XM_024446063.1:c.1373-58_1373-52del	XP_024301831.1:n.1373-58_1373-52del
XM_024446064.1:c.1328-58_1328-52del	XP_024301832.1:n.1328-58_1328-52del
XR_001742071.1:n.1606-58_1606-52del
XR_001742072.1:n.1583-58_1583-52del
XR_001742074.1:n.1342-58_1342-52del
XR_001742075.1:n.1494-58_1494-52del
XR_001742076.1:n.1571-58_1571-52del
XR_001742077.1:n.1594-58_1594-52del
NM_001364440.2:c.1328-58_1328-52del	NP_001351369.1:n.1328-58_1328-52del
NM_001364441.2:c.1328-58_1328-52del	NP_001351370.1:n.1328-58_1328-52del
NM_001364442.2:c.1328-58_1328-52del	NP_001351371.1:n.1328-58_1328-52del
NM_002454.3:c.1328-58_1328-52del MANE Select	NP_002445.2:n.1328-58_1328-52del
NM_024010.4:c.1328-58_1328-52del	NP_076915.3:n.1328-58_1328-52del
NR_134480.2:n.1407-58_1407-52del
NR_134481.2:n.1332-58_1332-52del
NR_134482.2:n.1267-58_1267-52del
NR_157168.2:n.1381-58_1381-52del
NR_157169.2:n.1241-58_1241-52del
NR_157170.2:n.1407-58_1407-52del
NR_157171.2:n.1264-58_1264-52del
NR_157172.2:n.1178-58_1178-52del
NR_157173.2:n.1418-58_1418-52del
NR_157174.2:n.1419-58_1419-52del
NR_157175.2:n.1573-58_1573-52del
NR_157176.2:n.1736-58_1736-52del
NR_157177.2:n.1416-58_1416-52del
NR_157178.2:n.1444-58_1444-52del