Canonical Allele Identifier: CA257196
Gene: MTR HGNC NCBI

Linked Data

dbSNP Id: rs797044444
MyVariant Identifiers: chr1:g.237024495_237024496del (hg19) chr1:g.236861195_236861196del (hg38)
PubMed: PMID:9683607
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236861195_236861196del , CM000663.2:g.236861195_236861196del GRCh38
NC_000001.10:g.237024495_237024496del , CM000663.1:g.237024495_237024496del GRCh37
NC_000001.9:g.235091118_235091119del NCBI36
NG_008959.1:g.70915_70916del

Transcript Alleles

HGVS Amino-acid change
ENST00000366577.10:c.2114_2115del MANE Select ENSP00000355536.5:p.Leu705GlnfsTer4
ENST00000535889.6:c.2044-1041_2044-1040del ENSP00000441845.1:n.2044-1041_2044-1040de...
ENST00000650888.1:c.*1156_*1157del ENSP00000498393.1:n.*1156_*1157del
ENST00000651455.1:c.*858_*859del ENSP00000498963.1:n.*858_*859del
ENST00000674797.2:c.1766_1767del ENSP00000502299.2:p.Leu589GlnfsTer4
ENST00000679569.1:n.2428_2429del
ENST00000679842.1:c.2114_2115del ENSP00000506109.1:p.Leu705GlnfsTer4
ENST00000680454.1:n.2558_2559del
ENST00000681102.1:c.1934_1935del ENSP00000505600.1:p.Leu645GlnfsTer4
ENST00000681177.1:c.1676_1677del ENSP00000506327.1:p.Leu559GlnfsTer4
ENST00000681937.1:n.2308_2309del
ENST00000366576.3:c.776_777del ENSP00000355535.3:p.Leu259GlnfsTer4
ENST00000366577.9:c.2114_2115del ENSP00000355536.5:p.Leu705GlnfsTer4
ENST00000535889.5:c.2044-1041_2044-1040del ENSP00000441845.1:n.2044-1041_2044-1040de...
NM_000254.2:c.2114_2115del NP_000245.2:p.Leu705GlnfsTer4
NM_001291939.1:c.2044-1041_2044-1040del NP_001278868.1:n.2044-1041_2044-1040del
NM_001291940.1:c.893_894del NP_001278869.1:p.Leu298GlnfsTer4
XM_005273141.3:c.2111_2112del XP_005273198.1:p.Leu704GlnfsTer4
XM_006711769.2:c.2114_2115del XP_006711832.1:p.Leu705GlnfsTer4
XM_006711770.1:c.1178_1179del XP_006711833.1:p.Leu393GlnfsTer4
XM_011544193.1:c.2114_2115del XP_011542495.1:p.Leu705GlnfsTer4
XM_011544194.1:c.2282_2283del XP_011542496.1:p.Leu761GlnfsTer4
XM_005273141.5:c.2111_2112del XP_005273198.1:p.Leu704GlnfsTer4
XM_006711770.3:c.1178_1179del XP_006711833.1:p.Leu393GlnfsTer4
XM_011544194.3:c.2282_2283del XP_011542496.1:p.Leu761GlnfsTer4
XM_017001329.2:c.2212-1041_2212-1040del XP_016856818.1:n.2212-1041_2212-1040del
XM_017001330.2:c.2282_2283del XP_016856819.1:p.Leu761GlnfsTer4
NM_001291940.2:c.893_894del NP_001278869.1:p.Leu298GlnfsTer4
NM_000254.3:c.2114_2115del MANE Select NP_000245.2:p.Leu705GlnfsTer4
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