Canonical Allele Identifier: CA645533127
Gene: MTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852569_236852578del , CM000663.2:g.236852569_236852578del GRCh38
NC_000001.10:g.237015869_237015878del , CM000663.1:g.237015869_237015878del GRCh37
NC_000001.9:g.235082492_235082501del NCBI36
NG_008959.1:g.62289_62298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1744_1753del MANE Select ENSP00000355536.5:p.Phe582GlufsTer27
ENST00000535889.6:c.1744_1753del ENSP00000441845.1:p.Phe582GlufsTer27
ENST00000650888.1:c.*786_*795del ENSP00000498393.1:n.*786_*795del
ENST00000651455.1:c.*488_*497del ENSP00000498963.1:n.*488_*497del
ENST00000674797.2:c.1396_1405del ENSP00000502299.2:p.Phe466GlufsTer27
ENST00000679569.1:n.2058_2067del
ENST00000679842.1:c.1744_1753del ENSP00000506109.1:p.Phe582GlufsTer27
ENST00000680454.1:n.2188_2197del
ENST00000681102.1:c.1564_1573del ENSP00000505600.1:p.Phe522GlufsTer27
ENST00000681177.1:c.1516-7264_1516-7255del ENSP00000506327.1:n.1516-7264_1516-7255del
ENST00000681937.1:n.2148-7264_2148-7255del
ENST00000366576.3:c.406_415del ENSP00000355535.3:p.Phe136GlufsTer27
ENST00000366577.9:c.1744_1753del ENSP00000355536.5:p.Phe582GlufsTer27
ENST00000463959.1:n.1763_1772del
ENST00000535889.5:c.1744_1753del ENSP00000441845.1:p.Phe582GlufsTer27
NM_000254.2:c.1744_1753del NP_000245.2:p.Phe582GlufsTer27
NM_001291939.1:c.1744_1753del NP_001278868.1:p.Phe582GlufsTer27
NM_001291940.1:c.523_532del NP_001278869.1:p.Phe175GlufsTer27
XM_005273141.3:c.1741_1750del XP_005273198.1:p.Phe581GlufsTer27
XM_006711769.2:c.1744_1753del XP_006711832.1:p.Phe582GlufsTer27
XM_006711770.1:c.808_817del XP_006711833.1:p.Phe270GlufsTer27
XM_011544193.1:c.1744_1753del XP_011542495.1:p.Phe582GlufsTer27
XM_011544194.1:c.1912_1921del XP_011542496.1:p.Phe638GlufsTer27
XM_005273141.5:c.1741_1750del XP_005273198.1:p.Phe581GlufsTer27
XM_006711770.3:c.808_817del XP_006711833.1:p.Phe270GlufsTer27
XM_011544194.3:c.1912_1921del XP_011542496.1:p.Phe638GlufsTer27
XM_017001329.2:c.1912_1921del XP_016856818.1:p.Phe638GlufsTer27
XM_017001330.2:c.1912_1921del XP_016856819.1:p.Phe638GlufsTer27
NM_001291940.2:c.523_532del NP_001278869.1:p.Phe175GlufsTer27
NM_000254.3:c.1744_1753del MANE Select NP_000245.2:p.Phe582GlufsTer27