Canonical Allele Identifier: CA2487090344
Gene: MTR HGNC NCBI

Linked Data

dbSNP Id: rs1663972225

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852570_236852572del , CM000663.2:g.236852570_236852572del GRCh38
NC_000001.10:g.237015870_237015872del , CM000663.1:g.237015870_237015872del GRCh37
NC_000001.9:g.235082493_235082495del NCBI36
NG_008959.1:g.62290_62292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1745_1747del MANE Select ENSP00000355536.5:p.Phe582del
ENST00000535889.6:c.1745_1747del ENSP00000441845.1:p.Phe582del
ENST00000650888.1:c.*787_*789del ENSP00000498393.1:n.*787_*789del
ENST00000651455.1:c.*489_*491del ENSP00000498963.1:n.*489_*491del
ENST00000674797.2:c.1397_1399del ENSP00000502299.2:p.Phe466del
ENST00000679569.1:n.2059_2061del
ENST00000679842.1:c.1745_1747del ENSP00000506109.1:p.Phe582del
ENST00000680454.1:n.2189_2191del
ENST00000681102.1:c.1565_1567del ENSP00000505600.1:p.Phe522del
ENST00000681177.1:c.1516-7263_1516-7261del ENSP00000506327.1:n.1516-7263_1516-7261del
ENST00000681937.1:n.2148-7263_2148-7261del
ENST00000366576.3:c.407_409del ENSP00000355535.3:p.Phe136del
ENST00000366577.9:c.1745_1747del ENSP00000355536.5:p.Phe582del
ENST00000463959.1:n.1764_1766del
ENST00000535889.5:c.1745_1747del ENSP00000441845.1:p.Phe582del
NM_000254.2:c.1745_1747del NP_000245.2:p.Phe582del
NM_001291939.1:c.1745_1747del NP_001278868.1:p.Phe582del
NM_001291940.1:c.524_526del NP_001278869.1:p.Phe175del
XM_005273141.3:c.1742_1744del XP_005273198.1:p.Phe581del
XM_006711769.2:c.1745_1747del XP_006711832.1:p.Phe582del
XM_006711770.1:c.809_811del XP_006711833.1:p.Phe270del
XM_011544193.1:c.1745_1747del XP_011542495.1:p.Phe582del
XM_011544194.1:c.1913_1915del XP_011542496.1:p.Phe638del
XM_005273141.5:c.1742_1744del XP_005273198.1:p.Phe581del
XM_006711770.3:c.809_811del XP_006711833.1:p.Phe270del
XM_011544194.3:c.1913_1915del XP_011542496.1:p.Phe638del
XM_017001329.2:c.1913_1915del XP_016856818.1:p.Phe638del
XM_017001330.2:c.1913_1915del XP_016856819.1:p.Phe638del
NM_001291940.2:c.524_526del NP_001278869.1:p.Phe175del
NM_000254.3:c.1745_1747del MANE Select NP_000245.2:p.Phe582del