Canonical Allele Identifier: CA2739274014
Gene: MTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2858772
ClinVar RCV Id: RCV003631009

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852637_236852638insATAC , CM000663.2:g.236852637_236852638insATAC GRCh38
NC_000001.10:g.237015937_237015938insATAC , CM000663.1:g.237015937_237015938insATAC GRCh37
NC_000001.9:g.235082560_235082561insATAC NCBI36
NG_008959.1:g.62357_62358insATAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1812_1812+1insATAC MANE Select ENSP00000355536.5:n.1812_1812+1insATAC
ENST00000535889.6:c.1812_1812+1insATAC ENSP00000441845.1:n.1812_1812+1insATAC
ENST00000650888.1:c.*854_*854+1insATAC ENSP00000498393.1:n.*854_*854+1insATAC
ENST00000651455.1:c.*556_*556+1insATAC ENSP00000498963.1:n.*556_*556+1insATAC
ENST00000674797.2:c.1464_1464+1insATAC ENSP00000502299.2:n.1464_1464+1insATAC
ENST00000679569.1:n.2126_2126+1insATAC
ENST00000679842.1:c.1812_1812+1insATAC ENSP00000506109.1:n.1812_1812+1insATAC
ENST00000680454.1:n.2256_2256+1insATAC
ENST00000681102.1:c.1632_1632+1insATAC ENSP00000505600.1:n.1632_1632+1insATAC
ENST00000681177.1:c.1516-7196_1516-7195insATAC ENSP00000506327.1:n.1516-7196_1516-7195insATAC
ENST00000681937.1:n.2148-7196_2148-7195insATAC
ENST00000366576.3:c.474_474+1insATAC ENSP00000355535.3:n.474_474+1insATAC
ENST00000366577.9:c.1812_1812+1insATAC ENSP00000355536.5:n.1812_1812+1insATAC
ENST00000463959.1:n.1831_1831+1insATAC
ENST00000535889.5:c.1812_1812+1insATAC ENSP00000441845.1:n.1812_1812+1insATAC
NM_000254.2:c.1812_1812+1insATAC NP_000245.2:n.1812_1812+1insATAC
NM_001291939.1:c.1812_1812+1insATAC NP_001278868.1:n.1812_1812+1insATAC
NM_001291940.1:c.591_591+1insATAC NP_001278869.1:n.591_591+1insATAC
XM_005273141.3:c.1809_1809+1insATAC XP_005273198.1:n.1809_1809+1insATAC
XM_006711769.2:c.1812_1812+1insATAC XP_006711832.1:n.1812_1812+1insATAC
XM_006711770.1:c.876_876+1insATAC XP_006711833.1:n.876_876+1insATAC
XM_011544193.1:c.1812_1812+1insATAC XP_011542495.1:n.1812_1812+1insATAC
XM_011544194.1:c.1980_1980+1insATAC XP_011542496.1:n.1980_1980+1insATAC
XM_005273141.5:c.1809_1809+1insATAC XP_005273198.1:n.1809_1809+1insATAC
XM_006711770.3:c.876_876+1insATAC XP_006711833.1:n.876_876+1insATAC
XM_011544194.3:c.1980_1980+1insATAC XP_011542496.1:n.1980_1980+1insATAC
XM_017001329.2:c.1980_1980+1insATAC XP_016856818.1:n.1980_1980+1insATAC
XM_017001330.2:c.1980_1980+1insATAC XP_016856819.1:n.1980_1980+1insATAC
NM_001291940.2:c.591_591+1insATAC NP_001278869.1:n.591_591+1insATAC
NM_000254.3:c.1812_1812+1insATAC MANE Select NP_000245.2:n.1812_1812+1insATAC