Canonical Allele Identifier: CA2556570571
Gene: MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7877976_7877977insCATTAAAAA , CM000667.2:g.7877976_7877977insCATTAAAAA GRCh38
NC_000005.9:g.7878089_7878090insCATTAAAAA , CM000667.1:g.7878089_7878090insCATTAAAAA GRCh37
NC_000005.8:g.7931089_7931090insCATTAAAAA NCBI36
NG_008856.1:g.13873_13874insCATTAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.434_435insCATTAAAAA MANE Select ENSP00000402510.2:p.Gly145_Leu146insIleLysLys
ENST00000264668.6:c.515_516insCATTAAAAA ENSP00000264668.2:p.Gly172_Leu173insIleLysLys
ENST00000440940.6:c.434_435insCATTAAAAA ENSP00000402510.2:p.Gly145_Leu146insIleLysLys
ENST00000502509.5:n.649_650insCATTAAAAA
ENST00000502550.5:c.434_435insCATTAAAAA ENSP00000424599.1:p.Gly145_Leu146insIleLysLys
ENST00000508047.5:c.487_488insCATTAAAAA
ENST00000508890.1:n.247_248insCATTAAAAA
ENST00000510279.5:c.*103_*104insCATTAAAAA ENSP00000427200.1:n.*103_*104insCATTAAAAA
ENST00000510525.5:c.459_460insCATTAAAAA
ENST00000511461.5:c.347_348insCATTAAAAA
ENST00000513439.5:c.*141_*142insCATTAAAAA ENSP00000426710.1:n.*141_*142insCATTAAAAA
ENST00000514220.5:c.219_220insCATTAAAAA
ENST00000514369.5:c.*98_*99insCATTAAAAA ENSP00000426132.1:n.*98_*99insCATTAAAAA
NM_002454.2:c.434_435insCATTAAAAA NP_002445.2:p.Gly145_Leu146insIleLysLys
NM_024010.2:c.515_516insCATTAAAAA NP_076915.2:p.Gly172_Leu173insIleLysLys
XM_006714474.2:c.515_516insCATTAAAAA XP_006714537.1:p.Gly172_Leu173insIleLysLys
XM_011514043.1:c.515_516insCATTAAAAA XP_011512345.1:p.Gly172_Leu173insIleLysLys
XM_011514044.1:c.434_435insCATTAAAAA XP_011512346.1:p.Gly145_Leu146insIleLysLys
XM_011514045.1:c.515_516insCATTAAAAA XP_011512347.1:p.Gly172_Leu173insIleLysLys
XR_241702.1:n.537_538insCATTAAAAA
XR_241703.1:n.530_531insCATTAAAAA
XR_925614.1:n.537_538insCATTAAAAA
XR_925615.1:n.537_538insCATTAAAAA
NM_001364440.1:c.434_435insCATTAAAAA NP_001351369.1:p.Gly145_Leu146insIleLysLys
NM_001364441.1:c.434_435insCATTAAAAA NP_001351370.1:p.Gly145_Leu146insIleLysLys
NM_001364442.1:c.434_435insCATTAAAAA NP_001351371.1:p.Gly145_Leu146insIleLysLys
NM_024010.3:c.434_435insCATTAAAAA NP_076915.3:p.Gly145_Leu146insIleLysLys
NR_134480.1:n.557_558insCATTAAAAA
NR_134481.1:n.571_572insCATTAAAAA
NR_134482.1:n.417_418insCATTAAAAA
NR_157168.1:n.487_488insCATTAAAAA
NR_157169.1:n.347_348insCATTAAAAA
NR_157170.1:n.373_374insCATTAAAAA
NR_157171.1:n.347_348insCATTAAAAA
NR_157172.1:n.373_374insCATTAAAAA
NR_157173.1:n.501_502insCATTAAAAA
NR_157174.1:n.373_374insCATTAAAAA
NR_157175.1:n.527_528insCATTAAAAA
NR_157176.1:n.527_528insCATTAAAAA
NR_157177.1:n.522_523insCATTAAAAA
NR_157178.1:n.527_528insCATTAAAAA
XM_024446063.1:c.479_480insCATTAAAAA XP_024301831.1:p.Gly160_Leu161insIleLysLys
XM_024446064.1:c.434_435insCATTAAAAA XP_024301832.1:p.Gly145_Leu146insIleLysLys
XR_001742071.1:n.537_538insCATTAAAAA
XR_001742072.1:n.537_538insCATTAAAAA
XR_001742074.1:n.537_538insCATTAAAAA
XR_001742075.1:n.537_538insCATTAAAAA
XR_001742076.1:n.537_538insCATTAAAAA
XR_001742077.1:n.537_538insCATTAAAAA
NM_001364440.2:c.434_435insCATTAAAAA NP_001351369.1:p.Gly145_Leu146insIleLysLys
NM_001364441.2:c.434_435insCATTAAAAA NP_001351370.1:p.Gly145_Leu146insIleLysLys
NM_001364442.2:c.434_435insCATTAAAAA NP_001351371.1:p.Gly145_Leu146insIleLysLys
NM_002454.3:c.434_435insCATTAAAAA MANE Select NP_002445.2:p.Gly145_Leu146insIleLysLys
NM_024010.4:c.434_435insCATTAAAAA NP_076915.3:p.Gly145_Leu146insIleLysLys
NR_134480.2:n.513_514insCATTAAAAA
NR_134481.2:n.527_528insCATTAAAAA
NR_134482.2:n.373_374insCATTAAAAA
NR_157168.2:n.487_488insCATTAAAAA
NR_157169.2:n.347_348insCATTAAAAA
NR_157170.2:n.373_374insCATTAAAAA
NR_157171.2:n.347_348insCATTAAAAA
NR_157172.2:n.373_374insCATTAAAAA
NR_157173.2:n.501_502insCATTAAAAA
NR_157174.2:n.373_374insCATTAAAAA
NR_157175.2:n.527_528insCATTAAAAA
NR_157176.2:n.527_528insCATTAAAAA
NR_157177.2:n.522_523insCATTAAAAA
NR_157178.2:n.527_528insCATTAAAAA