Canonical Allele Identifier: CA814249702

Gene: MTRR

Linked Data

• dbSNP Id: rs1459953027
• MyVariant Identifiers: chr5:g.7878142_7878143del (hg19) ; chr5:g.7878029_7878030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878030_7878031del , CM000667.2:g.7878030_7878031del	GRCh38
NC_000005.9:g.7878143_7878144del , CM000667.1:g.7878143_7878144del	GRCh37
NC_000005.8:g.7931143_7931144del	NCBI36
NG_008856.1:g.13927_13928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.488_489del MANE Select	ENSP00000402510.2:p.Ile163LysfsTer25
ENST00000264668.6:c.569_570del	ENSP00000264668.2:p.Ile190LysfsTer25
ENST00000440940.6:c.488_489del	ENSP00000402510.2:p.Ile163LysfsTer25
ENST00000502509.5:n.703_704del
ENST00000508890.1:n.301_302del
ENST00000510279.5:c.*157_*158del	ENSP00000427200.1:n.*157_*158del
ENST00000510525.5:c.513_514del
ENST00000511461.5:c.401_402del
ENST00000513439.5:c.*195_*196del	ENSP00000426710.1:n.*195_*196del
ENST00000514220.5:c.273_274del
ENST00000514369.5:c.*152_*153del	ENSP00000426132.1:n.*152_*153del
NM_002454.2:c.488_489del	NP_002445.2:p.Ile163LysfsTer25
NM_024010.2:c.569_570del	NP_076915.2:p.Ile190LysfsTer25
XM_006714474.2:c.569_570del	XP_006714537.1:p.Ile190LysfsTer25
XM_011514043.1:c.569_570del	XP_011512345.1:p.Ile190LysfsTer25
XM_011514044.1:c.488_489del	XP_011512346.1:p.Ile163LysfsTer25
XM_011514045.1:c.569_570del	XP_011512347.1:p.Ile190LysfsTer25
XR_241702.1:n.591_592del
XR_241703.1:n.584_585del
XR_925614.1:n.591_592del
XR_925615.1:n.591_592del
NM_001364440.1:c.488_489del	NP_001351369.1:p.Ile163LysfsTer25
NM_001364441.1:c.488_489del	NP_001351370.1:p.Ile163LysfsTer25
NM_001364442.1:c.488_489del	NP_001351371.1:p.Ile163LysfsTer25
NM_024010.3:c.488_489del	NP_076915.3:p.Ile163LysfsTer25
NR_134480.1:n.611_612del
NR_134481.1:n.625_626del
NR_134482.1:n.471_472del
NR_157168.1:n.541_542del
NR_157169.1:n.401_402del
NR_157170.1:n.427_428del
NR_157171.1:n.401_402del
NR_157172.1:n.427_428del
NR_157173.1:n.555_556del
NR_157174.1:n.427_428del
NR_157175.1:n.581_582del
NR_157176.1:n.581_582del
NR_157177.1:n.576_577del
NR_157178.1:n.581_582del
XM_024446063.1:c.533_534del	XP_024301831.1:p.Ile178LysfsTer25
XM_024446064.1:c.488_489del	XP_024301832.1:p.Ile163LysfsTer25
XR_001742071.1:n.591_592del
XR_001742072.1:n.591_592del
XR_001742074.1:n.591_592del
XR_001742075.1:n.591_592del
XR_001742076.1:n.591_592del
XR_001742077.1:n.591_592del
NM_001364440.2:c.488_489del	NP_001351369.1:p.Ile163LysfsTer25
NM_001364441.2:c.488_489del	NP_001351370.1:p.Ile163LysfsTer25
NM_001364442.2:c.488_489del	NP_001351371.1:p.Ile163LysfsTer25
NM_002454.3:c.488_489del MANE Select	NP_002445.2:p.Ile163LysfsTer25
NM_024010.4:c.488_489del	NP_076915.3:p.Ile163LysfsTer25
NR_134480.2:n.567_568del
NR_134481.2:n.581_582del
NR_134482.2:n.427_428del
NR_157168.2:n.541_542del
NR_157169.2:n.401_402del
NR_157170.2:n.427_428del
NR_157171.2:n.401_402del
NR_157172.2:n.427_428del
NR_157173.2:n.555_556del
NR_157174.2:n.427_428del
NR_157175.2:n.581_582del
NR_157176.2:n.581_582del
NR_157177.2:n.576_577del
NR_157178.2:n.581_582del