Canonical Allele Identifier: CA2580073150

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2115097
• ClinVar RCV Id: RCV003046283

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878296del , CM000667.2:g.7878296del	GRCh38
NC_000005.9:g.7878409del , CM000667.1:g.7878409del	GRCh37
NC_000005.8:g.7931409del	NCBI36
NG_008856.1:g.14193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.754del MANE Select	ENSP00000402510.2:p.Val252TyrfsTer16
ENST00000264668.6:c.835del	ENSP00000264668.2:p.Val279TyrfsTer16
ENST00000440940.6:c.754del	ENSP00000402510.2:p.Val252TyrfsTer16
ENST00000510525.5:c.779del
ENST00000511461.5:c.667del
ENST00000513439.5:c.*461del	ENSP00000426710.1:n.*461del
ENST00000514369.5:c.*418del	ENSP00000426132.1:n.*418del
NM_002454.2:c.754del	NP_002445.2:p.Val252TyrfsTer16
NM_024010.2:c.835del	NP_076915.2:p.Val279TyrfsTer16
XM_006714474.2:c.835del	XP_006714537.1:p.Val279TyrfsTer16
XM_011514043.1:c.835del	XP_011512345.1:p.Val279TyrfsTer16
XM_011514044.1:c.754del	XP_011512346.1:p.Val252TyrfsTer16
XM_011514045.1:c.835del	XP_011512347.1:p.Val279TyrfsTer16
XR_241702.1:n.857del
XR_241703.1:n.850del
XR_925614.1:n.857del
XR_925615.1:n.857del
NM_001364440.1:c.754del	NP_001351369.1:p.Val252TyrfsTer16
NM_001364441.1:c.754del	NP_001351370.1:p.Val252TyrfsTer16
NM_001364442.1:c.754del	NP_001351371.1:p.Val252TyrfsTer16
NM_024010.3:c.754del	NP_076915.3:p.Val252TyrfsTer16
NR_134480.1:n.877del
NR_134481.1:n.891del
NR_134482.1:n.737del
NR_157168.1:n.807del
NR_157169.1:n.667del
NR_157170.1:n.693del
NR_157171.1:n.667del
NR_157172.1:n.693del
NR_157173.1:n.821del
NR_157174.1:n.693del
NR_157175.1:n.847del
NR_157176.1:n.847del
NR_157177.1:n.842del
NR_157178.1:n.847del
XM_024446063.1:c.799del	XP_024301831.1:p.Val267TyrfsTer16
XM_024446064.1:c.754del	XP_024301832.1:p.Val252TyrfsTer16
XR_001742071.1:n.857del
XR_001742072.1:n.857del
XR_001742074.1:n.857del
XR_001742075.1:n.857del
XR_001742076.1:n.857del
XR_001742077.1:n.857del
NM_001364440.2:c.754del	NP_001351369.1:p.Val252TyrfsTer16
NM_001364441.2:c.754del	NP_001351370.1:p.Val252TyrfsTer16
NM_001364442.2:c.754del	NP_001351371.1:p.Val252TyrfsTer16
NM_002454.3:c.754del MANE Select	NP_002445.2:p.Val252TyrfsTer16
NM_024010.4:c.754del	NP_076915.3:p.Val252TyrfsTer16
NR_134480.2:n.833del
NR_134481.2:n.847del
NR_134482.2:n.693del
NR_157168.2:n.807del
NR_157169.2:n.667del
NR_157170.2:n.693del
NR_157171.2:n.667del
NR_157172.2:n.693del
NR_157173.2:n.821del
NR_157174.2:n.693del
NR_157175.2:n.847del
NR_157176.2:n.847del
NR_157177.2:n.842del
NR_157178.2:n.847del