Canonical Allele Identifier: CA973870717

Gene: MEFV

Linked Data

• dbSNP Id: rs1958898869
• gnomAD v3: 16-3243872-GAGCGCCAA-G
• gnomAD v4: 16-3243872-GAGCGCCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243873_3243880del , CM000678.2:g.3243873_3243880del	GRCh38
NC_000016.9:g.3293873_3293880del , CM000678.1:g.3293873_3293880del	GRCh37
NC_000016.8:g.3233874_3233881del	NCBI36
NG_007871.1:g.17748_17755del , LRG_190:g.17748_17755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.893_900del
ENST00000219596.6:c.1772_1779del MANE Select	ENSP00000219596.1:p.Ile591ThrfsTer6
ENST00000219596.5:c.1772_1779del	ENSP00000219596.1:p.Ile591ThrfsTer6
ENST00000339854.8:c.1232_1239del	ENSP00000339639.4:p.Ile411ThrfsTer6
ENST00000536379.5:c.1139_1146del	ENSP00000445079.1:p.Ile380ThrfsTer6
ENST00000536980.5:c.*48_*55del	ENSP00000444178.1:n.*48_*55del
ENST00000537682.5:c.*48_*55del	ENSP00000438611.1:n.*48_*55del
ENST00000538326.5:c.*397_*404del	ENSP00000437486.1:n.*397_*404del
ENST00000539145.5:c.693_700del	ENSP00000444471.1:n.693_700del
ENST00000541159.5:c.1314_1321del	ENSP00000438711.1:p.Trp439ArgfsTer7
ENST00000542898.5:c.*48_*55del	ENSP00000444615.1:n.*48_*55del
ENST00000570511.5:c.1177_1184del	ENSP00000458312.1:n.1177_1184del
ENST00000572244.5:c.462_469del	ENSP00000461186.1:n.462_469del
ENST00000574583.5:c.544_551del	ENSP00000460269.1:n.544_551del
ENST00000576315.5:c.577_584del	ENSP00000460551.1:n.577_584del
ENST00000621655.1:c.1309_1316del	ENSP00000481436.1:n.1309_1316del
NM_000243.2:c.1772_1779del , LRG_190t1:c.1772_1779del	NP_000234.1:p.Ile591ThrfsTer6
NM_001198536.1:c.1314_1321del	NP_001185465.1:p.Trp439ArgfsTer7
XM_017023236.2:c.1769_1776del	XP_016878725.1:p.Ile590ThrfsTer6
XR_001751903.1:n.2079_2086del
NM_000243.3:c.1772_1779del MANE Select	NP_000234.1:p.Ile591ThrfsTer6
NM_001198536.2:c.1314_1321del	NP_001185465.2:p.Trp439ArgfsTer7