Canonical Allele Identifier: CA2575889913
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3249868del , CM000678.2:g.3249868del GRCh38
NC_000016.9:g.3299868del , CM000678.1:g.3299868del GRCh37
NC_000016.8:g.3239869del NCBI36
NG_007871.1:g.11761del , LRG_190:g.11761del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219596.6:c.911-87del MANE Select ENSP00000219596.1:n.911-87del
ENST00000219596.5:c.911-87del ENSP00000219596.1:n.911-87del
ENST00000339854.8:c.371-87del ENSP00000339639.4:n.371-87del
ENST00000536379.5:c.278-87del ENSP00000445079.1:n.278-87del
ENST00000536980.5:c.278-87del ENSP00000444178.1:n.278-87del
ENST00000537682.5:c.911-87del ENSP00000438611.1:n.911-87del
ENST00000538326.5:c.911-87del ENSP00000437486.1:n.911-87del
ENST00000539145.5:c.278-2621del ENSP00000444471.1:n.278-2621del
ENST00000541159.5:c.278-87del ENSP00000438711.1:n.278-87del
ENST00000542898.5:c.1004-87del ENSP00000444615.1:n.1004-87del
ENST00000570511.5:c.911-2621del ENSP00000458312.1:n.911-2621del
ENST00000572244.5:c.278-3320del ENSP00000461186.1:n.278-3320del
ENST00000574583.5:c.278-2621del ENSP00000460269.1:n.278-2621del
ENST00000576315.5:c.278-2621del ENSP00000460551.1:n.278-2621del
ENST00000621655.1:c.278-87del ENSP00000481436.1:n.278-87del
NM_000243.2:c.911-87del , LRG_190t1:c.911-87del NP_000234.1:n.911-87del
NM_001198536.1:c.278-87del NP_001185465.1:n.278-87del
XM_017023236.2:c.911-87del XP_016878725.1:n.911-87del
XR_001751903.1:n.1100-87del
NM_000243.3:c.911-87del MANE Select NP_000234.1:n.911-87del
NM_001198536.2:c.278-87del NP_001185465.2:n.278-87del