Canonical Allele Identifier: CA2805617356

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243947dup , CM000678.2:g.3243947dup	GRCh38
NC_000016.9:g.3293947dup , CM000678.1:g.3293947dup	GRCh37
NC_000016.8:g.3233948dup	NCBI36
NG_007871.1:g.17684dup , LRG_190:g.17684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.881-52dup
ENST00000219596.6:c.1760-52dup MANE Select	ENSP00000219596.1:n.1760-52dup
ENST00000219596.5:c.1760-52dup	ENSP00000219596.1:n.1760-52dup
ENST00000339854.8:c.1220-52dup	ENSP00000339639.4:n.1220-52dup
ENST00000536379.5:c.1127-52dup	ENSP00000445079.1:n.1127-52dup
ENST00000536980.5:c.*36-52dup	ENSP00000444178.1:n.*36-52dup
ENST00000537682.5:c.*36-52dup	ENSP00000438611.1:n.*36-52dup
ENST00000538326.5:c.*385-52dup	ENSP00000437486.1:n.*385-52dup
ENST00000539145.5:c.681-52dup	ENSP00000444471.1:n.681-52dup
ENST00000541159.5:c.1250dup	ENSP00000438711.1:p.Leu418SerfsTer2
ENST00000542898.5:c.*36-52dup	ENSP00000444615.1:n.*36-52dup
ENST00000570511.5:c.1165-52dup	ENSP00000458312.1:n.1165-52dup
ENST00000572244.5:c.450-52dup	ENSP00000461186.1:n.450-52dup
ENST00000574583.5:c.532-52dup	ENSP00000460269.1:n.532-52dup
ENST00000576315.5:c.565-52dup	ENSP00000460551.1:n.565-52dup
ENST00000621655.1:c.1245dup	ENSP00000481436.1:n.1245dup
NM_000243.2:c.1760-52dup , LRG_190t1:c.1760-52dup	NP_000234.1:n.1760-52dup
NM_001198536.1:c.1250dup	NP_001185465.1:p.Leu418SerfsTer2
XM_017023236.2:c.1757-52dup	XP_016878725.1:n.1757-52dup
XR_001751903.1:n.2067-52dup
NM_000243.3:c.1760-52dup MANE Select	NP_000234.1:n.1760-52dup
NM_001198536.2:c.1250dup	NP_001185465.2:p.Leu418SerfsTer2