Canonical Allele Identifier: CA814259529

Gene: MTRR

Linked Data

• dbSNP Id: rs71591748
• gnomAD v3: 5-7891289-ATTTTTT-A
• gnomAD v4: 5-7891289-ATTTTTT-A
• MyVariant Identifiers: chr5:g.7891403_7891408del (hg19) ; chr5:g.7891290_7891295del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891307_7891312del , CM000667.2:g.7891307_7891312del	GRCh38
NC_000005.9:g.7891420_7891425del , CM000667.1:g.7891420_7891425del	GRCh37
NC_000005.8:g.7944420_7944425del	NCBI36
NG_008856.1:g.27204_27209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1328-65_1328-60del MANE Select	ENSP00000402510.2:n.1328-65_1328-60del
ENST00000264668.6:c.1409-65_1409-60del	ENSP00000264668.2:n.1409-65_1409-60del
ENST00000440940.6:c.1328-65_1328-60del	ENSP00000402510.2:n.1328-65_1328-60del
ENST00000507414.1:n.68-65_68-60del
ENST00000508101.5:n.568-65_568-60del
ENST00000510525.5:c.1264-65_1264-60del
ENST00000511461.5:c.1241-65_1241-60del
ENST00000512311.5:n.307-65_307-60del
ENST00000513439.5:c.*1035-65_*1035-60del	ENSP00000426710.1:n.*1035-65_*1035-60del
NM_002454.2:c.1328-65_1328-60del	NP_002445.2:n.1328-65_1328-60del
NM_024010.2:c.1409-65_1409-60del	NP_076915.2:n.1409-65_1409-60del
XM_011514043.1:c.1409-65_1409-60del	XP_011512345.1:n.1409-65_1409-60del
XM_011514044.1:c.1328-65_1328-60del	XP_011512346.1:n.1328-65_1328-60del
XR_241702.1:n.1342-65_1342-60del
XR_241703.1:n.1335-65_1335-60del
XR_925614.1:n.1454-65_1454-60del
XR_925615.1:n.1606-65_1606-60del
NM_001364440.1:c.1328-65_1328-60del	NP_001351369.1:n.1328-65_1328-60del
NM_001364441.1:c.1328-65_1328-60del	NP_001351370.1:n.1328-65_1328-60del
NM_001364442.1:c.1328-65_1328-60del	NP_001351371.1:n.1328-65_1328-60del
NM_024010.3:c.1328-65_1328-60del	NP_076915.3:n.1328-65_1328-60del
NR_134480.1:n.1451-65_1451-60del
NR_134481.1:n.1376-65_1376-60del
NR_134482.1:n.1311-65_1311-60del
NR_157168.1:n.1381-65_1381-60del
NR_157169.1:n.1241-65_1241-60del
NR_157170.1:n.1407-65_1407-60del
NR_157171.1:n.1264-65_1264-60del
NR_157172.1:n.1178-65_1178-60del
NR_157173.1:n.1418-65_1418-60del
NR_157174.1:n.1419-65_1419-60del
NR_157175.1:n.1573-65_1573-60del
NR_157176.1:n.1736-65_1736-60del
NR_157177.1:n.1416-65_1416-60del
NR_157178.1:n.1444-65_1444-60del
XM_024446063.1:c.1373-65_1373-60del	XP_024301831.1:n.1373-65_1373-60del
XM_024446064.1:c.1328-65_1328-60del	XP_024301832.1:n.1328-65_1328-60del
XR_001742071.1:n.1606-65_1606-60del
XR_001742072.1:n.1583-65_1583-60del
XR_001742074.1:n.1342-65_1342-60del
XR_001742075.1:n.1494-65_1494-60del
XR_001742076.1:n.1571-65_1571-60del
XR_001742077.1:n.1594-65_1594-60del
NM_001364440.2:c.1328-65_1328-60del	NP_001351369.1:n.1328-65_1328-60del
NM_001364441.2:c.1328-65_1328-60del	NP_001351370.1:n.1328-65_1328-60del
NM_001364442.2:c.1328-65_1328-60del	NP_001351371.1:n.1328-65_1328-60del
NM_002454.3:c.1328-65_1328-60del MANE Select	NP_002445.2:n.1328-65_1328-60del
NM_024010.4:c.1328-65_1328-60del	NP_076915.3:n.1328-65_1328-60del
NR_134480.2:n.1407-65_1407-60del
NR_134481.2:n.1332-65_1332-60del
NR_134482.2:n.1267-65_1267-60del
NR_157168.2:n.1381-65_1381-60del
NR_157169.2:n.1241-65_1241-60del
NR_157170.2:n.1407-65_1407-60del
NR_157171.2:n.1264-65_1264-60del
NR_157172.2:n.1178-65_1178-60del
NR_157173.2:n.1418-65_1418-60del
NR_157174.2:n.1419-65_1419-60del
NR_157175.2:n.1573-65_1573-60del
NR_157176.2:n.1736-65_1736-60del
NR_157177.2:n.1416-65_1416-60del
NR_157178.2:n.1444-65_1444-60del