Canonical Allele Identifier: CA2568618056

Gene: MTRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878036del , CM000667.2:g.7878036del	GRCh38
NC_000005.9:g.7878149del , CM000667.1:g.7878149del	GRCh37
NC_000005.8:g.7931149del	NCBI36
NG_008856.1:g.13933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.494del MANE Select	ENSP00000402510.2:p.Gly165AlafsTer16
ENST00000264668.6:c.575del	ENSP00000264668.2:p.Gly192AlafsTer16
ENST00000440940.6:c.494del	ENSP00000402510.2:p.Gly165AlafsTer16
ENST00000502509.5:n.709del
ENST00000508890.1:n.307del
ENST00000510279.5:c.*163del	ENSP00000427200.1:n.*163del
ENST00000510525.5:c.519del
ENST00000511461.5:c.407del
ENST00000513439.5:c.*201del	ENSP00000426710.1:n.*201del
ENST00000514220.5:c.279del
ENST00000514369.5:c.*158del	ENSP00000426132.1:n.*158del
NM_002454.2:c.494del	NP_002445.2:p.Gly165AlafsTer16
NM_024010.2:c.575del	NP_076915.2:p.Gly192AlafsTer16
XM_006714474.2:c.575del	XP_006714537.1:p.Gly192AlafsTer16
XM_011514043.1:c.575del	XP_011512345.1:p.Gly192AlafsTer16
XM_011514044.1:c.494del	XP_011512346.1:p.Gly165AlafsTer16
XM_011514045.1:c.575del	XP_011512347.1:p.Gly192AlafsTer16
XR_241702.1:n.597del
XR_241703.1:n.590del
XR_925614.1:n.597del
XR_925615.1:n.597del
NM_001364440.1:c.494del	NP_001351369.1:p.Gly165AlafsTer16
NM_001364441.1:c.494del	NP_001351370.1:p.Gly165AlafsTer16
NM_001364442.1:c.494del	NP_001351371.1:p.Gly165AlafsTer16
NM_024010.3:c.494del	NP_076915.3:p.Gly165AlafsTer16
NR_134480.1:n.617del
NR_134481.1:n.631del
NR_134482.1:n.477del
NR_157168.1:n.547del
NR_157169.1:n.407del
NR_157170.1:n.433del
NR_157171.1:n.407del
NR_157172.1:n.433del
NR_157173.1:n.561del
NR_157174.1:n.433del
NR_157175.1:n.587del
NR_157176.1:n.587del
NR_157177.1:n.582del
NR_157178.1:n.587del
XM_024446063.1:c.539del	XP_024301831.1:p.Gly180AlafsTer16
XM_024446064.1:c.494del	XP_024301832.1:p.Gly165AlafsTer16
XR_001742071.1:n.597del
XR_001742072.1:n.597del
XR_001742074.1:n.597del
XR_001742075.1:n.597del
XR_001742076.1:n.597del
XR_001742077.1:n.597del
NM_001364440.2:c.494del	NP_001351369.1:p.Gly165AlafsTer16
NM_001364441.2:c.494del	NP_001351370.1:p.Gly165AlafsTer16
NM_001364442.2:c.494del	NP_001351371.1:p.Gly165AlafsTer16
NM_002454.3:c.494del MANE Select	NP_002445.2:p.Gly165AlafsTer16
NM_024010.4:c.494del	NP_076915.3:p.Gly165AlafsTer16
NR_134480.2:n.573del
NR_134481.2:n.587del
NR_134482.2:n.433del
NR_157168.2:n.547del
NR_157169.2:n.407del
NR_157170.2:n.433del
NR_157171.2:n.407del
NR_157172.2:n.433del
NR_157173.2:n.561del
NR_157174.2:n.433del
NR_157175.2:n.587del
NR_157176.2:n.587del
NR_157177.2:n.582del
NR_157178.2:n.587del