Canonical Allele Identifier: CA2202659088
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3244211_3244214delinsGCAA , CM000678.2:g.3244211_3244214delinsGCAA GRCh38
NC_000016.9:g.3294211_3294214delinsGCAA , CM000678.1:g.3294211_3294214delinsGCAA GRCh37
NC_000016.8:g.3234212_3234215delinsGCAA NCBI36
NG_007871.1:g.17414_17417delinsTTGC , LRG_190:g.17414_17417delinsTTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.880+40_880+43delinsTTGC
ENST00000219596.6:c.1759+40_1759+43delinsTTGC MANE Select ENSP00000219596.1:n.1759+40_1759+43delins...
ENST00000219596.5:c.1759+40_1759+43delinsTTGC ENSP00000219596.1:n.1759+40_1759+43delins...
ENST00000339854.8:c.1219+40_1219+43delinsTTGC ENSP00000339639.4:n.1219+40_1219+43delins...
ENST00000536379.5:c.1126+40_1126+43delinsTTGC ENSP00000445079.1:n.1126+40_1126+43delins...
ENST00000536980.5:c.1166_1169delinsTTGC ENSP00000444178.1:p.Val389=
ENST00000537682.5:c.1799_1802delinsTTGC ENSP00000438611.1:p.Val600=
ENST00000538326.5:c.*384+40_*384+43delinsTTGC ENSP00000437486.1:n.*384+40_*384+43delins...
ENST00000539145.5:c.680+40_680+43delinsTTGC ENSP00000444471.1:n.680+40_680+43delinsTT...
ENST00000541159.5:c.1126+40_1126+43delinsTTGC ENSP00000438711.1:n.1126+40_1126+43delins...
ENST00000542898.5:c.1892_1895delinsTTGC ENSP00000444615.1:p.Val631=
ENST00000570511.5:c.1165-322_1165-319delinsTTGC ENSP00000458312.1:n.1165-322_1165-319deli...
ENST00000572244.5:c.449+40_449+43delinsTTGC ENSP00000461186.1:n.449+40_449+43delinsTT...
ENST00000574583.5:c.532-322_532-319delinsTTGC ENSP00000460269.1:n.532-322_532-319delins...
ENST00000576315.5:c.564+40_564+43delinsTTGC ENSP00000460551.1:n.564+40_564+43delinsTT...
ENST00000621655.1:c.1126+40_1126+43delinsTTGC ENSP00000481436.1:n.1126+40_1126+43delins...
NM_000243.2:c.1759+40_1759+43delinsTTGC , LRG_190t1:c.1759+40_1759+43delinsTTGC NP_000234.1:n.1759+40_1759+43delinsTTGC
NM_001198536.1:c.1126+40_1126+43delinsTTGC NP_001185465.1:n.1126+40_1126+43delinsTTG...
XM_017023236.2:c.1756+40_1756+43delinsTTGC XP_016878725.1:n.1756+40_1756+43delinsTTG...
XR_001751903.1:n.1988_1991delinsTTGC
NM_000243.3:c.1759+40_1759+43delinsTTGC MANE Select NP_000234.1:n.1759+40_1759+43delinsTTGC
NM_001198536.2:c.1126+40_1126+43delinsTTGC NP_001185465.2:n.1126+40_1126+43delinsTTG...