Canonical Allele Identifier: CA2805617793

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3249834_3249835del , CM000678.2:g.3249834_3249835del	GRCh38
NC_000016.9:g.3299834_3299835del , CM000678.1:g.3299834_3299835del	GRCh37
NC_000016.8:g.3239835_3239836del	NCBI36
NG_007871.1:g.11796_11797del , LRG_190:g.11796_11797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.911-52_911-51del MANE Select	ENSP00000219596.1:n.911-52_911-51del
ENST00000219596.5:c.911-52_911-51del	ENSP00000219596.1:n.911-52_911-51del
ENST00000339854.8:c.371-52_371-51del	ENSP00000339639.4:n.371-52_371-51del
ENST00000536379.5:c.278-52_278-51del	ENSP00000445079.1:n.278-52_278-51del
ENST00000536980.5:c.278-52_278-51del	ENSP00000444178.1:n.278-52_278-51del
ENST00000537682.5:c.911-52_911-51del	ENSP00000438611.1:n.911-52_911-51del
ENST00000538326.5:c.911-52_911-51del	ENSP00000437486.1:n.911-52_911-51del
ENST00000539145.5:c.278-2586_278-2585del	ENSP00000444471.1:n.278-2586_278-2585del
ENST00000541159.5:c.278-52_278-51del	ENSP00000438711.1:n.278-52_278-51del
ENST00000542898.5:c.1004-52_1004-51del	ENSP00000444615.1:n.1004-52_1004-51del
ENST00000570511.5:c.911-2586_911-2585del	ENSP00000458312.1:n.911-2586_911-2585del
ENST00000572244.5:c.278-3285_278-3284del	ENSP00000461186.1:n.278-3285_278-3284del
ENST00000574583.5:c.278-2586_278-2585del	ENSP00000460269.1:n.278-2586_278-2585del
ENST00000576315.5:c.278-2586_278-2585del	ENSP00000460551.1:n.278-2586_278-2585del
ENST00000621655.1:c.278-52_278-51del	ENSP00000481436.1:n.278-52_278-51del
NM_000243.2:c.911-52_911-51del , LRG_190t1:c.911-52_911-51del	NP_000234.1:n.911-52_911-51del
NM_001198536.1:c.278-52_278-51del	NP_001185465.1:n.278-52_278-51del
XM_017023236.2:c.911-52_911-51del	XP_016878725.1:n.911-52_911-51del
XR_001751903.1:n.1100-52_1100-51del
NM_000243.3:c.911-52_911-51del MANE Select	NP_000234.1:n.911-52_911-51del
NM_001198536.2:c.278-52_278-51del	NP_001185465.2:n.278-52_278-51del