Canonical Allele Identifier: CA2631334170

Gene: MEFV

Linked Data

• gnomAD v4: 16-3244307-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244313_3244314del , CM000678.2:g.3244313_3244314del	GRCh38
NC_000016.9:g.3294313_3294314del , CM000678.1:g.3294313_3294314del	GRCh37
NC_000016.8:g.3234314_3234315del	NCBI36
NG_007871.1:g.17319_17320del , LRG_190:g.17319_17320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.848-23_848-22del
ENST00000219596.6:c.1727-23_1727-22del MANE Select	ENSP00000219596.1:n.1727-23_1727-22del
ENST00000219596.5:c.1727-23_1727-22del	ENSP00000219596.1:n.1727-23_1727-22del
ENST00000339854.8:c.1187-23_1187-22del	ENSP00000339639.4:n.1187-23_1187-22del
ENST00000536379.5:c.1094-23_1094-22del	ENSP00000445079.1:n.1094-23_1094-22del
ENST00000536980.5:c.1094-23_1094-22del	ENSP00000444178.1:n.1094-23_1094-22del
ENST00000537682.5:c.1727-23_1727-22del	ENSP00000438611.1:n.1727-23_1727-22del
ENST00000538326.5:c.*352-23_*352-22del	ENSP00000437486.1:n.*352-23_*352-22del
ENST00000539145.5:c.648-23_648-22del	ENSP00000444471.1:n.648-23_648-22del
ENST00000541159.5:c.1094-23_1094-22del	ENSP00000438711.1:n.1094-23_1094-22del
ENST00000542898.5:c.1820-23_1820-22del	ENSP00000444615.1:n.1820-23_1820-22del
ENST00000570511.5:c.1165-417_1165-416del	ENSP00000458312.1:n.1165-417_1165-416del
ENST00000572244.5:c.417-23_417-22del	ENSP00000461186.1:n.417-23_417-22del
ENST00000574583.5:c.532-417_532-416del	ENSP00000460269.1:n.532-417_532-416del
ENST00000576315.5:c.532-23_532-22del	ENSP00000460551.1:n.532-23_532-22del
ENST00000621655.1:c.1094-23_1094-22del	ENSP00000481436.1:n.1094-23_1094-22del
NM_000243.2:c.1727-23_1727-22del , LRG_190t1:c.1727-23_1727-22del	NP_000234.1:n.1727-23_1727-22del
NM_001198536.1:c.1094-23_1094-22del	NP_001185465.1:n.1094-23_1094-22del
XM_017023236.2:c.1724-23_1724-22del	XP_016878725.1:n.1724-23_1724-22del
XR_001751903.1:n.1916-23_1916-22del
NM_000243.3:c.1727-23_1727-22del MANE Select	NP_000234.1:n.1727-23_1727-22del
NM_001198536.2:c.1094-23_1094-22del	NP_001185465.2:n.1094-23_1094-22del