Canonical Allele Identifier: CA2202658915

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243929_3243930delinsGC , CM000678.2:g.3243929_3243930delinsGC	GRCh38
NC_000016.9:g.3293929_3293930delinsGC , CM000678.1:g.3293929_3293930delinsGC	GRCh37
NC_000016.8:g.3233930_3233931delinsGC	NCBI36
NG_007871.1:g.17698_17699delinsGC , LRG_190:g.17698_17699delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.881-38_881-37delinsGC
ENST00000219596.6:c.1760-38_1760-37delinsGC MANE Select	ENSP00000219596.1:n.1760-38_1760-37delinsGC
ENST00000219596.5:c.1760-38_1760-37delinsGC	ENSP00000219596.1:n.1760-38_1760-37delinsGC
ENST00000339854.8:c.1220-38_1220-37delinsGC	ENSP00000339639.4:n.1220-38_1220-37delinsGC
ENST00000536379.5:c.1127-38_1127-37delinsGC	ENSP00000445079.1:n.1127-38_1127-37delinsGC
ENST00000536980.5:c.*36-38_*36-37delinsGC	ENSP00000444178.1:n.*36-38_*36-37delinsGC
ENST00000537682.5:c.*36-38_*36-37delinsGC	ENSP00000438611.1:n.*36-38_*36-37delinsGC
ENST00000538326.5:c.*385-38_*385-37delinsGC	ENSP00000437486.1:n.*385-38_*385-37delinsGC
ENST00000539145.5:c.681-38_681-37delinsGC	ENSP00000444471.1:n.681-38_681-37delinsGC
ENST00000541159.5:c.1264_1265delinsGC	ENSP00000438711.1:p.Ala422=
ENST00000542898.5:c.*36-38_*36-37delinsGC	ENSP00000444615.1:n.*36-38_*36-37delinsGC
ENST00000570511.5:c.1165-38_1165-37delinsGC	ENSP00000458312.1:n.1165-38_1165-37delinsGC
ENST00000572244.5:c.450-38_450-37delinsGC	ENSP00000461186.1:n.450-38_450-37delinsGC
ENST00000574583.5:c.532-38_532-37delinsGC	ENSP00000460269.1:n.532-38_532-37delinsGC
ENST00000576315.5:c.565-38_565-37delinsGC	ENSP00000460551.1:n.565-38_565-37delinsGC
ENST00000621655.1:c.1259_1260delinsGC	ENSP00000481436.1:n.1259_1260delinsGC
NM_000243.2:c.1760-38_1760-37delinsGC , LRG_190t1:c.1760-38_1760-37delinsGC	NP_000234.1:n.1760-38_1760-37delinsGC
NM_001198536.1:c.1264_1265delinsGC	NP_001185465.1:p.Ala422=
XM_017023236.2:c.1757-38_1757-37delinsGC	XP_016878725.1:n.1757-38_1757-37delinsGC
XR_001751903.1:n.2067-38_2067-37delinsGC
NM_000243.3:c.1760-38_1760-37delinsGC MANE Select	NP_000234.1:n.1760-38_1760-37delinsGC
NM_001198536.2:c.1264_1265delinsGC	NP_001185465.2:p.Ala422=