Canonical Allele Identifier: CA3195911

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1100653
• ClinVar RCV Id: RCV001423334
• dbSNP Id: rs779772153
• ExAC: 5:7891473 ATTT / A
• gnomAD v2: 5-7891473-ATTT-A
• gnomAD v3: 5-7891360-ATTT-A
• gnomAD v4: 5-7891360-ATTT-A
• MyVariant Identifiers: chr5:g.7891474_7891476del (hg19) ; chr5:g.7891361_7891363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891365_7891367del , CM000667.2:g.7891365_7891367del	GRCh38
NC_000005.9:g.7891478_7891480del , CM000667.1:g.7891478_7891480del	GRCh37
NC_000005.8:g.7944478_7944480del	NCBI36
NG_008856.1:g.27262_27264del

Transcript Alleles

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