Canonical Allele Identifier: CA2534430731

Gene: MTRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7877959_7877960del , CM000667.2:g.7877959_7877960del	GRCh38
NC_000005.9:g.7878072_7878073del , CM000667.1:g.7878072_7878073del	GRCh37
NC_000005.8:g.7931072_7931073del	NCBI36
NG_008856.1:g.13856_13857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.417_418del MANE Select	ENSP00000402510.2:p.Glu140AlafsTer15
ENST00000264668.6:c.498_499del	ENSP00000264668.2:p.Glu167AlafsTer15
ENST00000440940.6:c.417_418del	ENSP00000402510.2:p.Glu140AlafsTer15
ENST00000502509.5:n.632_633del
ENST00000502550.5:c.417_418del	ENSP00000424599.1:p.Glu140AlafsTer15
ENST00000503550.5:c.*352_*353del	ENSP00000424644.1:n.*352_*353del
ENST00000508047.5:c.470_471del
ENST00000508890.1:n.230_231del
ENST00000510279.5:c.*86_*87del	ENSP00000427200.1:n.*86_*87del
ENST00000510525.5:c.442_443del
ENST00000511461.5:c.330_331del
ENST00000513439.5:c.*124_*125del	ENSP00000426710.1:n.*124_*125del
ENST00000514220.5:c.202_203del
ENST00000514369.5:c.*81_*82del	ENSP00000426132.1:n.*81_*82del
NM_002454.2:c.417_418del	NP_002445.2:p.Glu140AlafsTer15
NM_024010.2:c.498_499del	NP_076915.2:p.Glu167AlafsTer15
XM_006714474.2:c.498_499del	XP_006714537.1:p.Glu167AlafsTer15
XM_011514043.1:c.498_499del	XP_011512345.1:p.Glu167AlafsTer15
XM_011514044.1:c.417_418del	XP_011512346.1:p.Glu140AlafsTer15
XM_011514045.1:c.498_499del	XP_011512347.1:p.Glu167AlafsTer15
XR_241702.1:n.520_521del
XR_241703.1:n.513_514del
XR_925614.1:n.520_521del
XR_925615.1:n.520_521del
NM_001364440.1:c.417_418del	NP_001351369.1:p.Glu140AlafsTer15
NM_001364441.1:c.417_418del	NP_001351370.1:p.Glu140AlafsTer15
NM_001364442.1:c.417_418del	NP_001351371.1:p.Glu140AlafsTer15
NM_024010.3:c.417_418del	NP_076915.3:p.Glu140AlafsTer15
NR_134480.1:n.540_541del
NR_134481.1:n.554_555del
NR_134482.1:n.400_401del
NR_157168.1:n.470_471del
NR_157169.1:n.330_331del
NR_157170.1:n.356_357del
NR_157171.1:n.330_331del
NR_157172.1:n.356_357del
NR_157173.1:n.484_485del
NR_157174.1:n.356_357del
NR_157175.1:n.510_511del
NR_157176.1:n.510_511del
NR_157177.1:n.505_506del
NR_157178.1:n.510_511del
XM_024446063.1:c.462_463del	XP_024301831.1:p.Glu155AlafsTer15
XM_024446064.1:c.417_418del	XP_024301832.1:p.Glu140AlafsTer15
XR_001742071.1:n.520_521del
XR_001742072.1:n.520_521del
XR_001742074.1:n.520_521del
XR_001742075.1:n.520_521del
XR_001742076.1:n.520_521del
XR_001742077.1:n.520_521del
NM_001364440.2:c.417_418del	NP_001351369.1:p.Glu140AlafsTer15
NM_001364441.2:c.417_418del	NP_001351370.1:p.Glu140AlafsTer15
NM_001364442.2:c.417_418del	NP_001351371.1:p.Glu140AlafsTer15
NM_002454.3:c.417_418del MANE Select	NP_002445.2:p.Glu140AlafsTer15
NM_024010.4:c.417_418del	NP_076915.3:p.Glu140AlafsTer15
NR_134480.2:n.496_497del
NR_134481.2:n.510_511del
NR_134482.2:n.356_357del
NR_157168.2:n.470_471del
NR_157169.2:n.330_331del
NR_157170.2:n.356_357del
NR_157171.2:n.330_331del
NR_157172.2:n.356_357del
NR_157173.2:n.484_485del
NR_157174.2:n.356_357del
NR_157175.2:n.510_511del
NR_157176.2:n.510_511del
NR_157177.2:n.505_506del
NR_157178.2:n.510_511del