Canonical Allele Identifier: CA2580073149

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1986861
• ClinVar RCV Id: RCV002770836

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878187_7878190del , CM000667.2:g.7878187_7878190del	GRCh38
NC_000005.9:g.7878300_7878303del , CM000667.1:g.7878300_7878303del	GRCh37
NC_000005.8:g.7931300_7931303del	NCBI36
NG_008856.1:g.14084_14087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.645_648del MANE Select	ENSP00000402510.2:p.Gln216ProfsTer4
ENST00000264668.6:c.726_729del	ENSP00000264668.2:p.Gln243ProfsTer4
ENST00000440940.6:c.645_648del	ENSP00000402510.2:p.Gln216ProfsTer4
ENST00000510525.5:c.670_673del
ENST00000511461.5:c.558_561del
ENST00000513439.5:c.*352_*355del	ENSP00000426710.1:n.*352_*355del
ENST00000514220.5:c.430_433del
ENST00000514369.5:c.*309_*312del	ENSP00000426132.1:n.*309_*312del
NM_002454.2:c.645_648del	NP_002445.2:p.Gln216ProfsTer4
NM_024010.2:c.726_729del	NP_076915.2:p.Gln243ProfsTer4
XM_006714474.2:c.726_729del	XP_006714537.1:p.Gln243ProfsTer4
XM_011514043.1:c.726_729del	XP_011512345.1:p.Gln243ProfsTer4
XM_011514044.1:c.645_648del	XP_011512346.1:p.Gln216ProfsTer4
XM_011514045.1:c.726_729del	XP_011512347.1:p.Gln243ProfsTer4
XR_241702.1:n.748_751del
XR_241703.1:n.741_744del
XR_925614.1:n.748_751del
XR_925615.1:n.748_751del
NM_001364440.1:c.645_648del	NP_001351369.1:p.Gln216ProfsTer4
NM_001364441.1:c.645_648del	NP_001351370.1:p.Gln216ProfsTer4
NM_001364442.1:c.645_648del	NP_001351371.1:p.Gln216ProfsTer4
NM_024010.3:c.645_648del	NP_076915.3:p.Gln216ProfsTer4
NR_134480.1:n.768_771del
NR_134481.1:n.782_785del
NR_134482.1:n.628_631del
NR_157168.1:n.698_701del
NR_157169.1:n.558_561del
NR_157170.1:n.584_587del
NR_157171.1:n.558_561del
NR_157172.1:n.584_587del
NR_157173.1:n.712_715del
NR_157174.1:n.584_587del
NR_157175.1:n.738_741del
NR_157176.1:n.738_741del
NR_157177.1:n.733_736del
NR_157178.1:n.738_741del
XM_024446063.1:c.690_693del	XP_024301831.1:p.Gln231ProfsTer4
XM_024446064.1:c.645_648del	XP_024301832.1:p.Gln216ProfsTer4
XR_001742071.1:n.748_751del
XR_001742072.1:n.748_751del
XR_001742074.1:n.748_751del
XR_001742075.1:n.748_751del
XR_001742076.1:n.748_751del
XR_001742077.1:n.748_751del
NM_001364440.2:c.645_648del	NP_001351369.1:p.Gln216ProfsTer4
NM_001364441.2:c.645_648del	NP_001351370.1:p.Gln216ProfsTer4
NM_001364442.2:c.645_648del	NP_001351371.1:p.Gln216ProfsTer4
NM_002454.3:c.645_648del MANE Select	NP_002445.2:p.Gln216ProfsTer4
NM_024010.4:c.645_648del	NP_076915.3:p.Gln216ProfsTer4
NR_134480.2:n.724_727del
NR_134481.2:n.738_741del
NR_134482.2:n.584_587del
NR_157168.2:n.698_701del
NR_157169.2:n.558_561del
NR_157170.2:n.584_587del
NR_157171.2:n.558_561del
NR_157172.2:n.584_587del
NR_157173.2:n.712_715del
NR_157174.2:n.584_587del
NR_157175.2:n.738_741del
NR_157176.2:n.738_741del
NR_157177.2:n.733_736del
NR_157178.2:n.738_741del