Canonical Allele Identifier: CA557639375

Gene: MTRR

Linked Data

• dbSNP Id: rs1161535926
• gnomAD v2: 5-7891470-TTTA-T
• gnomAD v3: 5-7891357-TTTA-T
• gnomAD v4: 5-7891357-TTTA-T
• MyVariant Identifiers: chr5:g.7891471_7891473del (hg19) ; chr5:g.7891358_7891360del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891360_7891362del , CM000667.2:g.7891360_7891362del	GRCh38
NC_000005.9:g.7891473_7891475del , CM000667.1:g.7891473_7891475del	GRCh37
NC_000005.8:g.7944473_7944475del	NCBI36
NG_008856.1:g.27257_27259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1328-12_1328-10del MANE Select	ENSP00000402510.2:n.1328-12_1328-10del
ENST00000264668.6:c.1409-12_1409-10del	ENSP00000264668.2:n.1409-12_1409-10del
ENST00000440940.6:c.1328-12_1328-10del	ENSP00000402510.2:n.1328-12_1328-10del
ENST00000507414.1:n.68-12_68-10del
ENST00000508101.5:n.568-12_568-10del
ENST00000510525.5:c.1264-12_1264-10del
ENST00000511461.5:c.1241-12_1241-10del
ENST00000512311.5:n.307-12_307-10del
ENST00000513439.5:c.*1035-12_*1035-10del	ENSP00000426710.1:n.*1035-12_*1035-10del
NM_002454.2:c.1328-12_1328-10del	NP_002445.2:n.1328-12_1328-10del
NM_024010.2:c.1409-12_1409-10del	NP_076915.2:n.1409-12_1409-10del
XM_011514043.1:c.1409-12_1409-10del	XP_011512345.1:n.1409-12_1409-10del
XM_011514044.1:c.1328-12_1328-10del	XP_011512346.1:n.1328-12_1328-10del
XR_241702.1:n.1342-12_1342-10del
XR_241703.1:n.1335-12_1335-10del
XR_925614.1:n.1454-12_1454-10del
XR_925615.1:n.1606-12_1606-10del
NM_001364440.1:c.1328-12_1328-10del	NP_001351369.1:n.1328-12_1328-10del
NM_001364441.1:c.1328-12_1328-10del	NP_001351370.1:n.1328-12_1328-10del
NM_001364442.1:c.1328-12_1328-10del	NP_001351371.1:n.1328-12_1328-10del
NM_024010.3:c.1328-12_1328-10del	NP_076915.3:n.1328-12_1328-10del
NR_134480.1:n.1451-12_1451-10del
NR_134481.1:n.1376-12_1376-10del
NR_134482.1:n.1311-12_1311-10del
NR_157168.1:n.1381-12_1381-10del
NR_157169.1:n.1241-12_1241-10del
NR_157170.1:n.1407-12_1407-10del
NR_157171.1:n.1264-12_1264-10del
NR_157172.1:n.1178-12_1178-10del
NR_157173.1:n.1418-12_1418-10del
NR_157174.1:n.1419-12_1419-10del
NR_157175.1:n.1573-12_1573-10del
NR_157176.1:n.1736-12_1736-10del
NR_157177.1:n.1416-12_1416-10del
NR_157178.1:n.1444-12_1444-10del
XM_024446063.1:c.1373-12_1373-10del	XP_024301831.1:n.1373-12_1373-10del
XM_024446064.1:c.1328-12_1328-10del	XP_024301832.1:n.1328-12_1328-10del
XR_001742071.1:n.1606-12_1606-10del
XR_001742072.1:n.1583-12_1583-10del
XR_001742074.1:n.1342-12_1342-10del
XR_001742075.1:n.1494-12_1494-10del
XR_001742076.1:n.1571-12_1571-10del
XR_001742077.1:n.1594-12_1594-10del
NM_001364440.2:c.1328-12_1328-10del	NP_001351369.1:n.1328-12_1328-10del
NM_001364441.2:c.1328-12_1328-10del	NP_001351370.1:n.1328-12_1328-10del
NM_001364442.2:c.1328-12_1328-10del	NP_001351371.1:n.1328-12_1328-10del
NM_002454.3:c.1328-12_1328-10del MANE Select	NP_002445.2:n.1328-12_1328-10del
NM_024010.4:c.1328-12_1328-10del	NP_076915.3:n.1328-12_1328-10del
NR_134480.2:n.1407-12_1407-10del
NR_134481.2:n.1332-12_1332-10del
NR_134482.2:n.1267-12_1267-10del
NR_157168.2:n.1381-12_1381-10del
NR_157169.2:n.1241-12_1241-10del
NR_157170.2:n.1407-12_1407-10del
NR_157171.2:n.1264-12_1264-10del
NR_157172.2:n.1178-12_1178-10del
NR_157173.2:n.1418-12_1418-10del
NR_157174.2:n.1419-12_1419-10del
NR_157175.2:n.1573-12_1573-10del
NR_157176.2:n.1736-12_1736-10del
NR_157177.2:n.1416-12_1416-10del
NR_157178.2:n.1444-12_1444-10del