Canonical Allele Identifier: CA1148427681
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852689_236852692delinsGGGG , CM000663.2:g.236852689_236852692delinsGGGG GRCh38
NC_000001.10:g.237015989_237015992delinsGGGG , CM000663.1:g.237015989_237015992delinsGGGG GRCh37
NC_000001.9:g.235082612_235082615delinsGGGG NCBI36
NG_008959.1:g.62409_62412delinsGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1812+52_1812+55delinsGGGG MANE Select ENSP00000355536.5:n.1812+52_1812+55delinsGGGG
ENST00000535889.6:c.1812+52_1812+55delinsGGGG ENSP00000441845.1:n.1812+52_1812+55delinsGGGG
ENST00000650888.1:c.*854+52_*854+55delinsGGGG ENSP00000498393.1:n.*854+52_*854+55delinsGGGG
ENST00000651455.1:c.*556+52_*556+55delinsGGGG ENSP00000498963.1:n.*556+52_*556+55delinsGGGG
ENST00000674797.2:c.1464+52_1464+55delinsGGGG ENSP00000502299.2:n.1464+52_1464+55delinsGGGG
ENST00000679569.1:n.2126+52_2126+55delinsGGGG
ENST00000679842.1:c.1812+52_1812+55delinsGGGG ENSP00000506109.1:n.1812+52_1812+55delinsGGGG
ENST00000680454.1:n.2256+52_2256+55delinsGGGG
ENST00000681102.1:c.1632+52_1632+55delinsGGGG ENSP00000505600.1:n.1632+52_1632+55delinsGGGG
ENST00000681177.1:c.1516-7144_1516-7141delinsGGGG ENSP00000506327.1:n.1516-7144_1516-7141delinsGGGG
ENST00000681937.1:n.2148-7144_2148-7141delinsGGGG
ENST00000366576.3:c.474+52_474+55delinsGGGG ENSP00000355535.3:n.474+52_474+55delinsGGGG
ENST00000366577.9:c.1812+52_1812+55delinsGGGG ENSP00000355536.5:n.1812+52_1812+55delinsGGGG
ENST00000463959.1:n.1831+52_1831+55delinsGGGG
ENST00000535889.5:c.1812+52_1812+55delinsGGGG ENSP00000441845.1:n.1812+52_1812+55delinsGGGG
NM_000254.2:c.1812+52_1812+55delinsGGGG NP_000245.2:n.1812+52_1812+55delinsGGGG
NM_001291939.1:c.1812+52_1812+55delinsGGGG NP_001278868.1:n.1812+52_1812+55delinsGGGG
NM_001291940.1:c.591+52_591+55delinsGGGG NP_001278869.1:n.591+52_591+55delinsGGGG
XM_005273141.3:c.1809+52_1809+55delinsGGGG XP_005273198.1:n.1809+52_1809+55delinsGGGG
XM_006711769.2:c.1812+52_1812+55delinsGGGG XP_006711832.1:n.1812+52_1812+55delinsGGGG
XM_006711770.1:c.876+52_876+55delinsGGGG XP_006711833.1:n.876+52_876+55delinsGGGG
XM_011544193.1:c.1812+52_1812+55delinsGGGG XP_011542495.1:n.1812+52_1812+55delinsGGGG
XM_011544194.1:c.1980+52_1980+55delinsGGGG XP_011542496.1:n.1980+52_1980+55delinsGGGG
XM_005273141.5:c.1809+52_1809+55delinsGGGG XP_005273198.1:n.1809+52_1809+55delinsGGGG
XM_006711770.3:c.876+52_876+55delinsGGGG XP_006711833.1:n.876+52_876+55delinsGGGG
XM_011544194.3:c.1980+52_1980+55delinsGGGG XP_011542496.1:n.1980+52_1980+55delinsGGGG
XM_017001329.2:c.1980+52_1980+55delinsGGGG XP_016856818.1:n.1980+52_1980+55delinsGGGG
XM_017001330.2:c.1980+52_1980+55delinsGGGG XP_016856819.1:n.1980+52_1980+55delinsGGGG
NM_001291940.2:c.591+52_591+55delinsGGGG NP_001278869.1:n.591+52_591+55delinsGGGG
NM_000254.3:c.1812+52_1812+55delinsGGGG MANE Select NP_000245.2:n.1812+52_1812+55delinsGGGG