Canonical Allele Identifier: CA2202658721

Gene: MEFV

Linked Data

• dbSNP Id: rs1958893255
• gnomAD v4: 16-3243562-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243563del , CM000678.2:g.3243563del	GRCh38
NC_000016.9:g.3293563del , CM000678.1:g.3293563del	GRCh37
NC_000016.8:g.3233564del	NCBI36
NG_007871.1:g.18065del , LRG_190:g.18065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1045del
ENST00000219596.6:c.1924del MANE Select	ENSP00000219596.1:p.Val642PhefsTer?
ENST00000219596.5:c.1924del	ENSP00000219596.1:p.Val642PhefsTer?
ENST00000339854.8:c.1384del	ENSP00000339639.4:p.Val462PhefsTer?
ENST00000536379.5:c.1291del	ENSP00000445079.1:p.Val431PhefsTer?
ENST00000536980.5:c.*200del	ENSP00000444178.1:n.*200del
ENST00000537682.5:c.*200del	ENSP00000438611.1:n.*200del
ENST00000538326.5:c.*549del	ENSP00000437486.1:n.*549del
ENST00000539145.5:c.845del	ENSP00000444471.1:n.845del
ENST00000541159.5:c.1466del	ENSP00000438711.1:n.1466del
ENST00000542898.5:c.*200del	ENSP00000444615.1:n.*200del
ENST00000570511.5:c.1329del	ENSP00000458312.1:n.1329del
ENST00000572244.5:c.614del	ENSP00000461186.1:n.614del
ENST00000574583.5:c.696del	ENSP00000460269.1:n.696del
ENST00000576315.5:c.729del	ENSP00000460551.1:n.729del
ENST00000621655.1:c.1461del	ENSP00000481436.1:n.1461del
NM_000243.2:c.1924del , LRG_190t1:c.1924del	NP_000234.1:p.Val642PhefsTer?
NM_001198536.1:c.*128del	NP_001185465.1:n.*128del
XM_017023236.2:c.1921del	XP_016878725.1:p.Val641PhefsTer?
NM_000243.3:c.1924del MANE Select	NP_000234.1:p.Val642PhefsTer?
NM_001198536.2:c.*128del	NP_001185465.2:n.*128del