Canonical Allele Identifier: CA916434759

Gene: MTR

Linked Data

• dbSNP Id: rs1558292473
• gnomAD v4: 1-236829225-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829225_236829226insT , CM000663.2:g.236829225_236829226insT	GRCh38
NC_000001.10:g.236992525_236992526insT , CM000663.1:g.236992525_236992526insT	GRCh37
NC_000001.9:g.235059148_235059149insT	NCBI36
NG_008959.1:g.38945_38946insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1032_1033insT MANE Select	ENSP00000355536.5:p.Val345CysfsTer8
ENST00000535889.6:c.1032_1033insT	ENSP00000441845.1:p.Val345CysfsTer8
ENST00000650888.1:c.*74_*75insT	ENSP00000498393.1:n.*74_*75insT
ENST00000651455.1:c.1032_1033insT	ENSP00000498963.1:p.Val345CysfsTer8
ENST00000674797.2:c.684_685insT	ENSP00000502299.2:p.Val229CysfsTer8
ENST00000679569.1:n.1346_1347insT
ENST00000679842.1:c.1032_1033insT	ENSP00000506109.1:p.Val345CysfsTer8
ENST00000680454.1:n.1476_1477insT
ENST00000681102.1:c.1032_1033insT	ENSP00000505600.1:p.Val345CysfsTer8
ENST00000681177.1:c.1032_1033insT	ENSP00000506327.1:p.Val345CysfsTer8
ENST00000681937.1:n.1664_1665insT
ENST00000366577.9:c.1032_1033insT	ENSP00000355536.5:p.Val345CysfsTer8
ENST00000463959.1:n.1051_1052insT
ENST00000535889.5:c.1032_1033insT	ENSP00000441845.1:p.Val345CysfsTer8
NM_000254.2:c.1032_1033insT	NP_000245.2:p.Val345CysfsTer8
NM_001291939.1:c.1032_1033insT	NP_001278868.1:p.Val345CysfsTer8
NM_001291940.1:c.-77_-76insT	NP_001278869.1:n.-77_-76insT
XM_005273141.3:c.1029_1030insT	XP_005273198.1:p.Val344CysfsTer8
XM_006711769.2:c.1032_1033insT	XP_006711832.1:p.Val345CysfsTer8
XM_006711770.1:c.96_97insT	XP_006711833.1:p.Val33CysfsTer8
XM_011544193.1:c.1032_1033insT	XP_011542495.1:p.Val345CysfsTer8
XM_011544194.1:c.1200_1201insT	XP_011542496.1:p.Val401CysfsTer8
XM_005273141.5:c.1029_1030insT	XP_005273198.1:p.Val344CysfsTer8
XM_006711770.3:c.96_97insT	XP_006711833.1:p.Val33CysfsTer8
XM_011544194.3:c.1200_1201insT	XP_011542496.1:p.Val401CysfsTer8
XM_017001329.2:c.1200_1201insT	XP_016856818.1:p.Val401CysfsTer8
XM_017001330.2:c.1200_1201insT	XP_016856819.1:p.Val401CysfsTer8
NM_001291940.2:c.-77_-76insT	NP_001278869.1:n.-77_-76insT
NM_000254.3:c.1032_1033insT MANE Select	NP_000245.2:p.Val345CysfsTer8