Canonical Allele Identifier: CA2487090343
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852567_236852570delinsCCTT , CM000663.2:g.236852567_236852570delinsCCTT GRCh38
NC_000001.10:g.237015867_237015870delinsCCTT , CM000663.1:g.237015867_237015870delinsCCTT GRCh37
NC_000001.9:g.235082490_235082493delinsCCTT NCBI36
NG_008959.1:g.62287_62290delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1742_1745delinsCCTT MANE Select ENSP00000355536.5:p.Ser581=
ENST00000535889.6:c.1742_1745delinsCCTT ENSP00000441845.1:p.Ser581=
ENST00000650888.1:c.*784_*787delinsCCTT ENSP00000498393.1:n.*784_*787delinsCCTT
ENST00000651455.1:c.*486_*489delinsCCTT ENSP00000498963.1:n.*486_*489delinsCCTT
ENST00000674797.2:c.1394_1397delinsCCTT ENSP00000502299.2:p.Ser465=
ENST00000679569.1:n.2056_2059delinsCCTT
ENST00000679842.1:c.1742_1745delinsCCTT ENSP00000506109.1:p.Ser581=
ENST00000680454.1:n.2186_2189delinsCCTT
ENST00000681102.1:c.1562_1565delinsCCTT ENSP00000505600.1:p.Ser521=
ENST00000681177.1:c.1516-7266_1516-7263delinsCCTT ENSP00000506327.1:n.1516-7266_1516-7263delinsCCTT
ENST00000681937.1:n.2148-7266_2148-7263delinsCCTT
ENST00000366576.3:c.404_407delinsCCTT ENSP00000355535.3:p.Ser135=
ENST00000366577.9:c.1742_1745delinsCCTT ENSP00000355536.5:p.Ser581=
ENST00000463959.1:n.1761_1764delinsCCTT
ENST00000535889.5:c.1742_1745delinsCCTT ENSP00000441845.1:p.Ser581=
NM_000254.2:c.1742_1745delinsCCTT NP_000245.2:p.Ser581=
NM_001291939.1:c.1742_1745delinsCCTT NP_001278868.1:p.Ser581=
NM_001291940.1:c.521_524delinsCCTT NP_001278869.1:p.Ser174=
XM_005273141.3:c.1739_1742delinsCCTT XP_005273198.1:p.Ser580=
XM_006711769.2:c.1742_1745delinsCCTT XP_006711832.1:p.Ser581=
XM_006711770.1:c.806_809delinsCCTT XP_006711833.1:p.Ser269=
XM_011544193.1:c.1742_1745delinsCCTT XP_011542495.1:p.Ser581=
XM_011544194.1:c.1910_1913delinsCCTT XP_011542496.1:p.Ser637=
XM_005273141.5:c.1739_1742delinsCCTT XP_005273198.1:p.Ser580=
XM_006711770.3:c.806_809delinsCCTT XP_006711833.1:p.Ser269=
XM_011544194.3:c.1910_1913delinsCCTT XP_011542496.1:p.Ser637=
XM_017001329.2:c.1910_1913delinsCCTT XP_016856818.1:p.Ser637=
XM_017001330.2:c.1910_1913delinsCCTT XP_016856819.1:p.Ser637=
NM_001291940.2:c.521_524delinsCCTT NP_001278869.1:p.Ser174=
NM_000254.3:c.1742_1745delinsCCTT MANE Select NP_000245.2:p.Ser581=