Canonical Allele Identifier: CA2673201929
Gene: MTRR HGNC NCBI

Linked Data

gnomAD v4: 5-7885751-TA-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885753del , CM000667.2:g.7885753del GRCh38
NC_000005.9:g.7885866del , CM000667.1:g.7885866del GRCh37
NC_000005.8:g.7938866del NCBI36
NG_008856.1:g.21650del

Transcript Alleles

HGVS Amino-acid change
ENST00000440940.7:c.956del MANE Select ENSP00000402510.2:p.Asn319ThrfsTer25
ENST00000264668.6:c.1037del ENSP00000264668.2:p.Asn346ThrfsTer25
ENST00000440940.6:c.956del ENSP00000402510.2:p.Asn319ThrfsTer25
ENST00000508101.5:n.196del
ENST00000510525.5:c.981del
ENST00000511461.5:c.869del
ENST00000513439.5:c.*663del ENSP00000426710.1:n.*663del
NM_002454.2:c.956del NP_002445.2:p.Asn319ThrfsTer25
NM_024010.2:c.1037del NP_076915.2:p.Asn346ThrfsTer25
XM_006714474.2:c.1037del XP_006714537.1:p.Asn346ThrfsTer25
XM_011514043.1:c.1037del XP_011512345.1:p.Asn346ThrfsTer25
XM_011514044.1:c.956del XP_011512346.1:p.Asn319ThrfsTer25
XM_011514045.1:c.*10del XP_011512347.1:n.*10del
XR_241702.1:n.1059del
XR_241703.1:n.1052del
XR_925614.1:n.1059del
XR_925615.1:n.1059del
NM_001364440.1:c.956del NP_001351369.1:p.Asn319ThrfsTer25
NM_001364441.1:c.956del NP_001351370.1:p.Asn319ThrfsTer25
NM_001364442.1:c.956del NP_001351371.1:p.Asn319ThrfsTer25
NM_024010.3:c.956del NP_076915.3:p.Asn319ThrfsTer25
NR_134480.1:n.1079del
NR_134481.1:n.1093del
NR_134482.1:n.939del
NR_157168.1:n.1009del
NR_157169.1:n.869del
NR_157170.1:n.1035del
NR_157171.1:n.869del
NR_157172.1:n.895del
NR_157173.1:n.1023del
NR_157174.1:n.895del
NR_157175.1:n.1049del
NR_157176.1:n.1189del
NR_157177.1:n.1044del
NR_157178.1:n.1049del
XM_024446063.1:c.1001del XP_024301831.1:p.Asn334ThrfsTer25
XM_024446064.1:c.956del XP_024301832.1:p.Asn319ThrfsTer25
XR_001742071.1:n.1059del
XR_001742072.1:n.1059del
XR_001742074.1:n.1059del
XR_001742075.1:n.1059del
XR_001742076.1:n.1199del
XR_001742077.1:n.1199del
NM_001364440.2:c.956del NP_001351369.1:p.Asn319ThrfsTer25
NM_001364441.2:c.956del NP_001351370.1:p.Asn319ThrfsTer25
NM_001364442.2:c.956del NP_001351371.1:p.Asn319ThrfsTer25
NM_002454.3:c.956del MANE Select NP_002445.2:p.Asn319ThrfsTer25
NM_024010.4:c.956del NP_076915.3:p.Asn319ThrfsTer25
NR_134480.2:n.1035del
NR_134481.2:n.1049del
NR_134482.2:n.895del
NR_157168.2:n.1009del
NR_157169.2:n.869del
NR_157170.2:n.1035del
NR_157171.2:n.869del
NR_157172.2:n.895del
NR_157173.2:n.1023del
NR_157174.2:n.895del
NR_157175.2:n.1049del
NR_157176.2:n.1189del
NR_157177.2:n.1044del
NR_157178.2:n.1049del