Canonical Allele Identifier: CA973872191

Gene: MEFV

Linked Data

• gnomAD v3: 16-3247186-GGAAGT-G
• gnomAD v4: 16-3247186-GGAAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247187_3247191del , CM000678.2:g.3247187_3247191del	GRCh38
NC_000016.9:g.3297187_3297191del , CM000678.1:g.3297187_3297191del	GRCh37
NC_000016.8:g.3237188_3237192del	NCBI36
NG_007871.1:g.14437_14441del , LRG_190:g.14437_14441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1412_1416del MANE Select	ENSP00000219596.1:p.Tyr471SerfsTer27
ENST00000219596.5:c.1412_1416del	ENSP00000219596.1:p.Tyr471SerfsTer27
ENST00000339854.8:c.872_876del	ENSP00000339639.4:p.Tyr291SerfsTer27
ENST00000536379.5:c.779_783del	ENSP00000445079.1:p.Tyr260SerfsTer27
ENST00000536980.5:c.779_783del	ENSP00000444178.1:p.Tyr260SerfsTer27
ENST00000537682.5:c.1412_1416del	ENSP00000438611.1:p.Tyr471SerfsTer27
ENST00000538326.5:c.*37_*41del	ENSP00000437486.1:n.*37_*41del
ENST00000539145.5:c.333_337del	ENSP00000444471.1:n.333_337del
ENST00000539154.1:n.777_781del
ENST00000541159.5:c.779_783del	ENSP00000438711.1:p.Tyr260SerfsTer27
ENST00000542898.5:c.1505_1509del	ENSP00000444615.1:p.Tyr502SerfsTer27
ENST00000570511.5:c.966_970del	ENSP00000458312.1:n.966_970del
ENST00000572244.5:c.278-644_278-640del	ENSP00000461186.1:n.278-644_278-640del
ENST00000574583.5:c.333_337del	ENSP00000460269.1:n.333_337del
ENST00000576315.5:c.333_337del	ENSP00000460551.1:n.333_337del
ENST00000621655.1:c.779_783del	ENSP00000481436.1:p.Tyr260SerfsTer27
NM_000243.2:c.1412_1416del , LRG_190t1:c.1412_1416del	NP_000234.1:p.Tyr471SerfsTer27
NM_001198536.1:c.779_783del	NP_001185465.1:p.Tyr260SerfsTer27
XM_017023236.2:c.1409_1413del	XP_016878725.1:p.Tyr470SerfsTer27
XR_001751903.1:n.1601_1605del
NM_000243.3:c.1412_1416del MANE Select	NP_000234.1:p.Tyr471SerfsTer27
NM_001198536.2:c.779_783del	NP_001185465.2:p.Tyr260SerfsTer27