Canonical Allele Identifier: CA280598
Gene: MEFV HGNC NCBI

Linked Data

ClinVar Variation Id: 97521
dbSNP Id: rs104895121

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3254688_3254696dup , CM000678.2:g.3254688_3254696dup GRCh38
NC_000016.9:g.3304688_3304696dup , CM000678.1:g.3304688_3304696dup GRCh37
NC_000016.8:g.3244689_3244697dup NCBI36
NG_007871.1:g.6943_6951dup , LRG_190:g.6943_6951dup

Transcript Alleles

HGVS Amino-acid change
ENST00000219596.6:c.383_391dup MANE Select ENSP00000219596.1:p.Asn130_Gly131insGluGl...
ENST00000219596.5:c.383_391dup ENSP00000219596.1:p.Asn130_Gly131insGluGl...
ENST00000339854.8:c.277+1626_277+1634dup ENSP00000339639.4:p.=
ENST00000536379.5:n.277+1626_277+1634dup ENSP00000445079.1:p.=
ENST00000536980.5:c.277+1626_277+1634dup ENSP00000444178.1:p.=
ENST00000537682.5:c.383_391dup ENSP00000438611.1:p.Asn130_Gly131insGluGl...
ENST00000538326.5:c.383_391dup ENSP00000437486.1:p.Asn130_Gly131insGluGl...
ENST00000539145.5:n.277+1626_277+1634dup ENSP00000444471.1:p.=
ENST00000541159.5:n.277+1626_277+1634dup ENSP00000438711.1:p.=
ENST00000542898.5:c.383_391dup ENSP00000444615.1:p.Asn130_Gly131insGluGl...
ENST00000570511.5:n.383_391dup ENSP00000458312.1:p.Asn130_Gly131insGluGl...
ENST00000572244.5:n.277+1626_277+1634dup ENSP00000461186.1:p.=
ENST00000574583.5:n.277+1626_277+1634dup ENSP00000460269.1:p.=
ENST00000576315.5:n.277+1626_277+1634dup ENSP00000460551.1:p.=
ENST00000621655.1:n.277+1626_277+1634dup ENSP00000481436.1:p.=
NM_000243.2:c.383_391dup , LRG_190t1:c.383_391dup NP_000234.1:p.Asn130_Gly131insGluGlyAsn
NM_001198536.1:c.277+1626_277+1634dup NP_001185465.1:p.=
XM_017023236.2:c.383_391dup XP_016878725.1:p.Asn130_Gly131insGluGlyAs...
XR_001751903.1:n.572_580dup
NM_000243.3:c.383_391dup MANE Select NP_000234.1:p.Asn130_Gly131insGluGlyAsn
NM_001198536.2:c.277+1626_277+1634dup NP_001185465.2:p.=