Canonical Allele Identifier: CA2202658543

Gene: MEFV

Linked Data

• ClinVar Variation Id: 1980766
• ClinVar RCV Id: RCV002761586
• dbSNP Id: rs1958883106

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243221_3243222insTTCA , CM000678.2:g.3243221_3243222insTTCA	GRCh38
NC_000016.9:g.3293221_3293222insTTCA , CM000678.1:g.3293221_3293222insTTCA	GRCh37
NC_000016.8:g.3233222_3233223insTTCA	NCBI36
NG_007871.1:g.18407_18408insGAAT , LRG_190:g.18407_18408insGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1387_1388insGAAT
ENST00000219596.6:c.2266_2267insGAAT MANE Select	ENSP00000219596.1:p.Phe756Ter
ENST00000219596.5:c.2266_2267insGAAT	ENSP00000219596.1:p.Phe756Ter
ENST00000339854.8:c.1726_1727insGAAT	ENSP00000339639.4:p.Phe576Ter
ENST00000536379.5:c.1633_1634insGAAT	ENSP00000445079.1:p.Phe545Ter
ENST00000536980.5:c.*542_*543insGAAT	ENSP00000444178.1:n.*542_*543insGAAT
ENST00000537682.5:c.*542_*543insGAAT	ENSP00000438611.1:n.*542_*543insGAAT
ENST00000538326.5:c.*891_*892insGAAT	ENSP00000437486.1:n.*891_*892insGAAT
ENST00000539145.5:c.1187_1188insGAAT	ENSP00000444471.1:n.1187_1188insGAAT
ENST00000541159.5:c.1808_1809insGAAT	ENSP00000438711.1:n.1808_1809insGAAT
ENST00000542898.5:c.*542_*543insGAAT	ENSP00000444615.1:n.*542_*543insGAAT
ENST00000570511.5:c.1671_1672insGAAT	ENSP00000458312.1:n.1671_1672insGAAT
ENST00000572244.5:c.956_957insGAAT	ENSP00000461186.1:n.956_957insGAAT
ENST00000574583.5:c.1038_1039insGAAT	ENSP00000460269.1:n.1038_1039insGAAT
ENST00000576315.5:c.1071_1072insGAAT	ENSP00000460551.1:n.1071_1072insGAAT
ENST00000621655.1:c.1803_1804insGAAT	ENSP00000481436.1:n.1803_1804insGAAT
NM_000243.2:c.2266_2267insGAAT , LRG_190t1:c.2266_2267insGAAT	NP_000234.1:p.Phe756Ter
NM_001198536.1:c.*470_*471insGAAT	NP_001185465.1:n.*470_*471insGAAT
XM_017023236.2:c.2263_2264insGAAT	XP_016878725.1:p.Phe755Ter
NM_000243.3:c.2266_2267insGAAT MANE Select	NP_000234.1:p.Phe756Ter
NM_001198536.2:c.*470_*471insGAAT	NP_001185465.2:n.*470_*471insGAAT