Canonical Allele Identifier: CA2695222720

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3254369_3254371dup , CM000678.2:g.3254369_3254371dup	GRCh38
NC_000016.9:g.3304369_3304371dup , CM000678.1:g.3304369_3304371dup	GRCh37
NC_000016.8:g.3244370_3244372dup	NCBI36
NG_007871.1:g.7258_7260dup , LRG_190:g.7258_7260dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.698_700dup MANE Select	ENSP00000219596.1:p.Leu233_Pro234insLeu
ENST00000219596.5:c.698_700dup	ENSP00000219596.1:p.Leu233_Pro234insLeu
ENST00000339854.8:c.277+1941_277+1943dup	ENSP00000339639.4:n.277+1941_277+1943dup
ENST00000536379.5:c.277+1941_277+1943dup	ENSP00000445079.1:n.277+1941_277+1943dup
ENST00000536980.5:c.277+1941_277+1943dup	ENSP00000444178.1:n.277+1941_277+1943dup
ENST00000537682.5:c.698_700dup	ENSP00000438611.1:p.Leu233_Pro234insLeu
ENST00000538326.5:c.698_700dup	ENSP00000437486.1:p.Leu233_Pro234insLeu
ENST00000539145.5:c.277+1941_277+1943dup	ENSP00000444471.1:n.277+1941_277+1943dup
ENST00000541159.5:c.277+1941_277+1943dup	ENSP00000438711.1:n.277+1941_277+1943dup
ENST00000542898.5:c.698_700dup	ENSP00000444615.1:p.Leu233_Pro234insLeu
ENST00000570511.5:c.698_700dup	ENSP00000458312.1:p.Leu233_Pro234insLeu
ENST00000572244.5:c.277+1941_277+1943dup	ENSP00000461186.1:n.277+1941_277+1943dup
ENST00000574583.5:c.277+1941_277+1943dup	ENSP00000460269.1:n.277+1941_277+1943dup
ENST00000576315.5:c.277+1941_277+1943dup	ENSP00000460551.1:n.277+1941_277+1943dup
ENST00000621655.1:c.277+1941_277+1943dup	ENSP00000481436.1:n.277+1941_277+1943dup
NM_000243.2:c.698_700dup , LRG_190t1:c.698_700dup	NP_000234.1:p.Leu233_Pro234insLeu
NM_001198536.1:c.277+1941_277+1943dup	NP_001185465.1:n.277+1941_277+1943dup
XM_017023236.2:c.698_700dup	XP_016878725.1:p.Leu233_Pro234insLeu
XR_001751903.1:n.887_889dup
NM_000243.3:c.698_700dup MANE Select	NP_000234.1:p.Leu233_Pro234insLeu
NM_001198536.2:c.277+1941_277+1943dup	NP_001185465.2:n.277+1941_277+1943dup