Canonical Allele Identifier: CA2673202958

Gene: MTRR

Linked Data

• gnomAD v4: 5-7891391-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891394del , CM000667.2:g.7891394del	GRCh38
NC_000005.9:g.7891507del , CM000667.1:g.7891507del	GRCh37
NC_000005.8:g.7944507del	NCBI36
NG_008856.1:g.27291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1350del MANE Select	ENSP00000402510.2:p.Arg451AspfsTer?
ENST00000264668.6:c.1431del	ENSP00000264668.2:p.Arg478AspfsTer?
ENST00000440940.6:c.1350del	ENSP00000402510.2:p.Arg451AspfsTer?
ENST00000507202.1:n.26del
ENST00000507414.1:n.90del
ENST00000510525.5:c.1286del
ENST00000511461.5:c.1263del
ENST00000512311.5:n.329del
ENST00000513439.5:c.*1057del	ENSP00000426710.1:n.*1057del
NM_002454.2:c.1350del	NP_002445.2:p.Arg451AspfsTer?
NM_024010.2:c.1431del	NP_076915.2:p.Arg478AspfsTer?
XM_011514043.1:c.1431del	XP_011512345.1:p.Arg478AspfsTer?
XM_011514044.1:c.1350del	XP_011512346.1:p.Arg451AspfsTer?
XR_241702.1:n.1364del
XR_241703.1:n.1357del
XR_925614.1:n.1476del
XR_925615.1:n.1628del
NM_001364440.1:c.1350del	NP_001351369.1:p.Arg451AspfsTer?
NM_001364441.1:c.1350del	NP_001351370.1:p.Arg451AspfsTer?
NM_001364442.1:c.1350del	NP_001351371.1:p.Arg451AspfsTer?
NM_024010.3:c.1350del	NP_076915.3:p.Arg451AspfsTer?
NR_134480.1:n.1473del
NR_134481.1:n.1398del
NR_134482.1:n.1333del
NR_157168.1:n.1403del
NR_157169.1:n.1263del
NR_157170.1:n.1429del
NR_157171.1:n.1286del
NR_157172.1:n.1200del
NR_157173.1:n.1440del
NR_157174.1:n.1441del
NR_157175.1:n.1595del
NR_157176.1:n.1758del
NR_157177.1:n.1438del
NR_157178.1:n.1466del
XM_024446063.1:c.1395del	XP_024301831.1:p.Arg466AspfsTer?
XM_024446064.1:c.1350del	XP_024301832.1:p.Arg451AspfsTer?
XR_001742071.1:n.1628del
XR_001742072.1:n.1605del
XR_001742074.1:n.1364del
XR_001742075.1:n.1516del
XR_001742076.1:n.1593del
XR_001742077.1:n.1616del
NM_001364440.2:c.1350del	NP_001351369.1:p.Arg451AspfsTer?
NM_001364441.2:c.1350del	NP_001351370.1:p.Arg451AspfsTer?
NM_001364442.2:c.1350del	NP_001351371.1:p.Arg451AspfsTer?
NM_002454.3:c.1350del MANE Select	NP_002445.2:p.Arg451AspfsTer?
NM_024010.4:c.1350del	NP_076915.3:p.Arg451AspfsTer?
NR_134480.2:n.1429del
NR_134481.2:n.1354del
NR_134482.2:n.1289del
NR_157168.2:n.1403del
NR_157169.2:n.1263del
NR_157170.2:n.1429del
NR_157171.2:n.1286del
NR_157172.2:n.1200del
NR_157173.2:n.1440del
NR_157174.2:n.1441del
NR_157175.2:n.1595del
NR_157176.2:n.1758del
NR_157177.2:n.1438del
NR_157178.2:n.1466del