Canonical Allele Identifier: CA2487090382
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852697_236852716delinsCAAAGTGTGGCATGCAGGCT , CM000663.2:g.236852697_236852716delinsCAAAGTGTGGCATGCAGGCT GRCh38
NC_000001.10:g.237015997_237016016delinsCAAAGTGTGGCATGCAGGCT , CM000663.1:g.237015997_237016016delinsCAAAGTGTGGCATGCAGGCT GRCh37
NC_000001.9:g.235082620_235082639delinsCAAAGTGTGGCATGCAGGCT NCBI36
NG_008959.1:g.62417_62436delinsCAAAGTGTGGCATGCAGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT MANE Select ENSP00000355536.5:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000535889.6:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000441845.1:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000650888.1:c.*854+60_*854+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000498393.1:n.*854+60_*854+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000651455.1:c.*556+60_*556+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000498963.1:n.*556+60_*556+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000674797.2:c.1464+60_1464+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000502299.2:n.1464+60_1464+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000679569.1:n.2126+60_2126+79delinsCAAAGTGTGGCATGCAGGCT
ENST00000679842.1:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000506109.1:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000680454.1:n.2256+60_2256+79delinsCAAAGTGTGGCATGCAGGCT
ENST00000681102.1:c.1632+60_1632+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000505600.1:n.1632+60_1632+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000681177.1:c.1516-7136_1516-7117delinsCAAAGTGTGGCATGCAGGCT ENSP00000506327.1:n.1516-7136_1516-7117delinsCAAAGTGTGGCATGCA...
ENST00000681937.1:n.2148-7136_2148-7117delinsCAAAGTGTGGCATGCAGGCT
ENST00000366576.3:c.474+60_474+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000355535.3:n.474+60_474+79delinsCAAAGTGTGGCATGCAGGCT
ENST00000366577.9:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000355536.5:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT...
ENST00000463959.1:n.1831+60_1831+79delinsCAAAGTGTGGCATGCAGGCT
ENST00000535889.5:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT ENSP00000441845.1:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT...
NM_000254.2:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT NP_000245.2:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT
NM_001291939.1:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT NP_001278868.1:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT
NM_001291940.1:c.591+60_591+79delinsCAAAGTGTGGCATGCAGGCT NP_001278869.1:n.591+60_591+79delinsCAAAGTGTGGCATGCAGGCT
XM_005273141.3:c.1809+60_1809+79delinsCAAAGTGTGGCATGCAGGCT XP_005273198.1:n.1809+60_1809+79delinsCAAAGTGTGGCATGCAGGCT
XM_006711769.2:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT XP_006711832.1:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT
XM_006711770.1:c.876+60_876+79delinsCAAAGTGTGGCATGCAGGCT XP_006711833.1:n.876+60_876+79delinsCAAAGTGTGGCATGCAGGCT
XM_011544193.1:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT XP_011542495.1:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT
XM_011544194.1:c.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT XP_011542496.1:n.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT
XM_005273141.5:c.1809+60_1809+79delinsCAAAGTGTGGCATGCAGGCT XP_005273198.1:n.1809+60_1809+79delinsCAAAGTGTGGCATGCAGGCT
XM_006711770.3:c.876+60_876+79delinsCAAAGTGTGGCATGCAGGCT XP_006711833.1:n.876+60_876+79delinsCAAAGTGTGGCATGCAGGCT
XM_011544194.3:c.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT XP_011542496.1:n.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT
XM_017001329.2:c.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT XP_016856818.1:n.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT
XM_017001330.2:c.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT XP_016856819.1:n.1980+60_1980+79delinsCAAAGTGTGGCATGCAGGCT
NM_001291940.2:c.591+60_591+79delinsCAAAGTGTGGCATGCAGGCT NP_001278869.1:n.591+60_591+79delinsCAAAGTGTGGCATGCAGGCT
NM_000254.3:c.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT MANE Select NP_000245.2:n.1812+60_1812+79delinsCAAAGTGTGGCATGCAGGCT