Canonical Allele Identifier: CA16617096
Gene: MTR HGNC NCBI

Linked Data

ClinVar Variation Id: 423261
ClinVar RCV Id: RCV000481590
dbSNP Id: rs1064796330

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236859882del , CM000663.2:g.236859882del GRCh38
NC_000001.10:g.237023182del , CM000663.1:g.237023182del GRCh37
NC_000001.9:g.235089805del NCBI36
NG_008959.1:g.69602del

Transcript Alleles

HGVS Amino-acid change
ENST00000366577.10:c.2003del MANE Select ENSP00000355536.5:p.Asn668MetfsTer13
ENST00000535889.6:c.2003del ENSP00000441845.1:p.Asn668MetfsTer13
ENST00000650888.1:c.*1045del ENSP00000498393.1:n.*1045del
ENST00000651455.1:c.*747del ENSP00000498963.1:n.*747del
ENST00000674797.2:c.1655del ENSP00000502299.2:p.Asn552MetfsTer13
ENST00000679569.1:n.2317del
ENST00000679842.1:c.2003del ENSP00000506109.1:p.Asn668MetfsTer13
ENST00000680454.1:n.2447del
ENST00000681102.1:c.1823del ENSP00000505600.1:p.Asn608MetfsTer13
ENST00000681177.1:c.1565del ENSP00000506327.1:p.Asn522MetfsTer13
ENST00000681937.1:n.2197del
ENST00000366576.3:c.665del ENSP00000355535.3:p.Asn222MetfsTer13
ENST00000366577.9:c.2003del ENSP00000355536.5:p.Asn668MetfsTer13
ENST00000535889.5:c.2003del ENSP00000441845.1:p.Asn668MetfsTer13
NM_000254.2:c.2003del NP_000245.2:p.Asn668MetfsTer13
NM_001291939.1:c.2003del NP_001278868.1:p.Asn668MetfsTer13
NM_001291940.1:c.782del NP_001278869.1:p.Asn261MetfsTer13
XM_005273141.3:c.2000del XP_005273198.1:p.Asn667MetfsTer13
XM_006711769.2:c.2003del XP_006711832.1:p.Asn668MetfsTer13
XM_006711770.1:c.1067del XP_006711833.1:p.Asn356MetfsTer13
XM_011544193.1:c.2003del XP_011542495.1:p.Asn668MetfsTer13
XM_011544194.1:c.2171del XP_011542496.1:p.Asn724MetfsTer13
XM_005273141.5:c.2000del XP_005273198.1:p.Asn667MetfsTer13
XM_006711770.3:c.1067del XP_006711833.1:p.Asn356MetfsTer13
XM_011544194.3:c.2171del XP_011542496.1:p.Asn724MetfsTer13
XM_017001329.2:c.2171del XP_016856818.1:p.Asn724MetfsTer13
XM_017001330.2:c.2171del XP_016856819.1:p.Asn724MetfsTer13
NM_001291940.2:c.782del NP_001278869.1:p.Asn261MetfsTer13
NM_000254.3:c.2003del MANE Select NP_000245.2:p.Asn668MetfsTer13