Canonical Allele Identifier: CA16617094
Gene: MTR HGNC NCBI

Linked Data

ClinVar Variation Id: 420357
ClinVar RCV Id: RCV000478711
dbSNP Id: rs1064794430

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236795691_236795693del , CM000663.2:g.236795691_236795693del GRCh38
NC_000001.10:g.236958991_236958993del , CM000663.1:g.236958991_236958993del GRCh37
NC_000001.9:g.235025614_235025616del NCBI36
NG_008959.1:g.5411_5413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.-13_-11del MANE Select ENSP00000355536.5:n.-13_-11del
ENST00000535889.6:c.-13_-11del ENSP00000441845.1:n.-13_-11del
ENST00000650888.1:c.-13_-11del ENSP00000498393.1:n.-13_-11del
ENST00000651455.1:c.-13_-11del ENSP00000498963.1:n.-13_-11del
ENST00000652435.1:c.-146_-144del ENSP00000505932.1:n.-146_-144del
ENST00000674797.2:c.-146_-144del ENSP00000502299.2:n.-146_-144del
ENST00000679569.1:n.305_307del
ENST00000680454.1:n.432_434del
ENST00000366577.9:c.-13_-11del ENSP00000355536.5:n.-13_-11del
ENST00000463959.1:n.77_79del
ENST00000535889.5:c.-13_-11del ENSP00000441845.1:n.-13_-11del
NM_000254.2:c.-13_-11del NP_000245.2:n.-13_-11del
NM_001291939.1:c.-13_-11del NP_001278868.1:n.-13_-11del
NM_001291940.1:c.-1121_-1119del NP_001278869.1:n.-1121_-1119del
XM_005273141.3:c.-13_-11del XP_005273198.1:n.-13_-11del
XM_006711769.2:c.-13_-11del XP_006711832.1:n.-13_-11del
XM_011544193.1:c.-13_-11del XP_011542495.1:n.-13_-11del
XM_011544194.1:c.371_373del XP_011542496.1:p.Gly124del
XM_005273141.5:c.-13_-11del XP_005273198.1:n.-13_-11del
XM_011544194.3:c.371_373del XP_011542496.1:p.Gly124del
XM_017001329.2:c.371_373del XP_016856818.1:p.Gly124del
XM_017001330.2:c.371_373del XP_016856819.1:p.Gly124del
NM_001291940.2:c.-1121_-1119del NP_001278869.1:n.-1121_-1119del
NM_000254.3:c.-13_-11del MANE Select NP_000245.2:n.-13_-11del