Canonical Allele Identifier: CA2631333791

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243460-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243461del , CM000678.2:g.3243461del	GRCh38
NC_000016.9:g.3293461del , CM000678.1:g.3293461del	GRCh37
NC_000016.8:g.3233462del	NCBI36
NG_007871.1:g.18167del , LRG_190:g.18167del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1147del
ENST00000219596.6:c.2026del MANE Select	ENSP00000219596.1:p.Arg676GlyfsTer5
ENST00000219596.5:c.2026del	ENSP00000219596.1:p.Arg676GlyfsTer5
ENST00000339854.8:c.1486del	ENSP00000339639.4:p.Arg496GlyfsTer5
ENST00000536379.5:c.1393del	ENSP00000445079.1:p.Arg465GlyfsTer5
ENST00000536980.5:c.*302del	ENSP00000444178.1:n.*302del
ENST00000537682.5:c.*302del	ENSP00000438611.1:n.*302del
ENST00000538326.5:c.*651del	ENSP00000437486.1:n.*651del
ENST00000539145.5:c.947del	ENSP00000444471.1:n.947del
ENST00000541159.5:c.1568del	ENSP00000438711.1:n.1568del
ENST00000542898.5:c.*302del	ENSP00000444615.1:n.*302del
ENST00000570511.5:c.1431del	ENSP00000458312.1:n.1431del
ENST00000572244.5:c.716del	ENSP00000461186.1:n.716del
ENST00000574583.5:c.798del	ENSP00000460269.1:n.798del
ENST00000576315.5:c.831del	ENSP00000460551.1:n.831del
ENST00000621655.1:c.1563del	ENSP00000481436.1:n.1563del
NM_000243.2:c.2026del , LRG_190t1:c.2026del	NP_000234.1:p.Arg676GlyfsTer5
NM_001198536.1:c.*230del	NP_001185465.1:n.*230del
XM_017023236.2:c.2023del	XP_016878725.1:p.Arg675GlyfsTer5
NM_000243.3:c.2026del MANE Select	NP_000234.1:p.Arg676GlyfsTer5
NM_001198536.2:c.*230del	NP_001185465.2:n.*230del