Canonical Allele Identifier: CA2575889674
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3244301del , CM000678.2:g.3244301del GRCh38
NC_000016.9:g.3294301del , CM000678.1:g.3294301del GRCh37
NC_000016.8:g.3234302del NCBI36
NG_007871.1:g.17329del , LRG_190:g.17329del

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.848-13del
ENST00000219596.6:c.1727-13del MANE Select ENSP00000219596.1:n.1727-13del
ENST00000219596.5:c.1727-13del ENSP00000219596.1:n.1727-13del
ENST00000339854.8:c.1187-13del ENSP00000339639.4:n.1187-13del
ENST00000536379.5:c.1094-13del ENSP00000445079.1:n.1094-13del
ENST00000536980.5:c.1094-13del ENSP00000444178.1:n.1094-13del
ENST00000537682.5:c.1727-13del ENSP00000438611.1:n.1727-13del
ENST00000538326.5:c.*352-13del ENSP00000437486.1:n.*352-13del
ENST00000539145.5:c.648-13del ENSP00000444471.1:n.648-13del
ENST00000541159.5:c.1094-13del ENSP00000438711.1:n.1094-13del
ENST00000542898.5:c.1820-13del ENSP00000444615.1:n.1820-13del
ENST00000570511.5:c.1165-407del ENSP00000458312.1:n.1165-407del
ENST00000572244.5:c.417-13del ENSP00000461186.1:n.417-13del
ENST00000574583.5:c.532-407del ENSP00000460269.1:n.532-407del
ENST00000576315.5:c.532-13del ENSP00000460551.1:n.532-13del
ENST00000621655.1:c.1094-13del ENSP00000481436.1:n.1094-13del
NM_000243.2:c.1727-13del , LRG_190t1:c.1727-13del NP_000234.1:n.1727-13del
NM_001198536.1:c.1094-13del NP_001185465.1:n.1094-13del
XM_017023236.2:c.1724-13del XP_016878725.1:n.1724-13del
XR_001751903.1:n.1916-13del
NM_000243.3:c.1727-13del MANE Select NP_000234.1:n.1727-13del
NM_001198536.2:c.1094-13del NP_001185465.2:n.1094-13del