Canonical Allele Identifier: CA917408365
Gene: MTRR HGNC NCBI

Linked Data

dbSNP Id: rs1561224598

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7885738_7885739insATCAG , CM000667.2:g.7885738_7885739insATCAG GRCh38
NC_000005.9:g.7885851_7885852insATCAG , CM000667.1:g.7885851_7885852insATCAG GRCh37
NC_000005.8:g.7938851_7938852insATCAG NCBI36
NG_008856.1:g.21635_21636insATCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.941_942insATCAG MANE Select ENSP00000402510.2:p.Ser314ArgfsTer4
ENST00000264668.6:c.1022_1023insATCAG ENSP00000264668.2:p.Ser341ArgfsTer4
ENST00000440940.6:c.941_942insATCAG ENSP00000402510.2:p.Ser314ArgfsTer4
ENST00000508101.5:n.181_182insATCAG
ENST00000510525.5:c.966_967insATCAG
ENST00000511461.5:c.854_855insATCAG
ENST00000513439.5:c.*648_*649insATCAG ENSP00000426710.1:n.*648_*649insATCAG
NM_002454.2:c.941_942insATCAG NP_002445.2:p.Ser314ArgfsTer4
NM_024010.2:c.1022_1023insATCAG NP_076915.2:p.Ser341ArgfsTer4
XM_006714474.2:c.1022_1023insATCAG XP_006714537.1:p.Ser341ArgfsTer4
XM_011514043.1:c.1022_1023insATCAG XP_011512345.1:p.Ser341ArgfsTer4
XM_011514044.1:c.941_942insATCAG XP_011512346.1:p.Ser314ArgfsTer4
XM_011514045.1:c.1162_1163insATCAG XP_011512347.1:p.Ala388AspfsTer7
XR_241702.1:n.1044_1045insATCAG
XR_241703.1:n.1037_1038insATCAG
XR_925614.1:n.1044_1045insATCAG
XR_925615.1:n.1044_1045insATCAG
NM_001364440.1:c.941_942insATCAG NP_001351369.1:p.Ser314ArgfsTer4
NM_001364441.1:c.941_942insATCAG NP_001351370.1:p.Ser314ArgfsTer4
NM_001364442.1:c.941_942insATCAG NP_001351371.1:p.Ser314ArgfsTer4
NM_024010.3:c.941_942insATCAG NP_076915.3:p.Ser314ArgfsTer4
NR_134480.1:n.1064_1065insATCAG
NR_134481.1:n.1078_1079insATCAG
NR_134482.1:n.924_925insATCAG
NR_157168.1:n.994_995insATCAG
NR_157169.1:n.854_855insATCAG
NR_157170.1:n.1020_1021insATCAG
NR_157171.1:n.854_855insATCAG
NR_157172.1:n.880_881insATCAG
NR_157173.1:n.1008_1009insATCAG
NR_157174.1:n.880_881insATCAG
NR_157175.1:n.1034_1035insATCAG
NR_157176.1:n.1174_1175insATCAG
NR_157177.1:n.1029_1030insATCAG
NR_157178.1:n.1034_1035insATCAG
XM_024446063.1:c.986_987insATCAG XP_024301831.1:p.Ser329ArgfsTer4
XM_024446064.1:c.941_942insATCAG XP_024301832.1:p.Ser314ArgfsTer4
XR_001742071.1:n.1044_1045insATCAG
XR_001742072.1:n.1044_1045insATCAG
XR_001742074.1:n.1044_1045insATCAG
XR_001742075.1:n.1044_1045insATCAG
XR_001742076.1:n.1184_1185insATCAG
XR_001742077.1:n.1184_1185insATCAG
NM_001364440.2:c.941_942insATCAG NP_001351369.1:p.Ser314ArgfsTer4
NM_001364441.2:c.941_942insATCAG NP_001351370.1:p.Ser314ArgfsTer4
NM_001364442.2:c.941_942insATCAG NP_001351371.1:p.Ser314ArgfsTer4
NM_002454.3:c.941_942insATCAG MANE Select NP_002445.2:p.Ser314ArgfsTer4
NM_024010.4:c.941_942insATCAG NP_076915.3:p.Ser314ArgfsTer4
NR_134480.2:n.1020_1021insATCAG
NR_134481.2:n.1034_1035insATCAG
NR_134482.2:n.880_881insATCAG
NR_157168.2:n.994_995insATCAG
NR_157169.2:n.854_855insATCAG
NR_157170.2:n.1020_1021insATCAG
NR_157171.2:n.854_855insATCAG
NR_157172.2:n.880_881insATCAG
NR_157173.2:n.1008_1009insATCAG
NR_157174.2:n.880_881insATCAG
NR_157175.2:n.1034_1035insATCAG
NR_157176.2:n.1174_1175insATCAG
NR_157177.2:n.1029_1030insATCAG
NR_157178.2:n.1034_1035insATCAG