Canonical Allele Identifier: CA2202658926

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243947_3243948delinsGC , CM000678.2:g.3243947_3243948delinsGC	GRCh38
NC_000016.9:g.3293947_3293948delinsGC , CM000678.1:g.3293947_3293948delinsGC	GRCh37
NC_000016.8:g.3233948_3233949delinsGC	NCBI36
NG_007871.1:g.17680_17681delinsGC , LRG_190:g.17680_17681delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.881-56_881-55delinsGC
ENST00000219596.6:c.1760-56_1760-55delinsGC MANE Select	ENSP00000219596.1:n.1760-56_1760-55delinsGC
ENST00000219596.5:c.1760-56_1760-55delinsGC	ENSP00000219596.1:n.1760-56_1760-55delinsGC
ENST00000339854.8:c.1220-56_1220-55delinsGC	ENSP00000339639.4:n.1220-56_1220-55delinsGC
ENST00000536379.5:c.1127-56_1127-55delinsGC	ENSP00000445079.1:n.1127-56_1127-55delinsGC
ENST00000536980.5:c.*36-56_*36-55delinsGC	ENSP00000444178.1:n.*36-56_*36-55delinsGC
ENST00000537682.5:c.*36-56_*36-55delinsGC	ENSP00000438611.1:n.*36-56_*36-55delinsGC
ENST00000538326.5:c.*385-56_*385-55delinsGC	ENSP00000437486.1:n.*385-56_*385-55delinsGC
ENST00000539145.5:c.681-56_681-55delinsGC	ENSP00000444471.1:n.681-56_681-55delinsGC
ENST00000541159.5:c.1246_1247delinsGC	ENSP00000438711.1:p.Ala416=
ENST00000542898.5:c.*36-56_*36-55delinsGC	ENSP00000444615.1:n.*36-56_*36-55delinsGC
ENST00000570511.5:c.1165-56_1165-55delinsGC	ENSP00000458312.1:n.1165-56_1165-55delinsGC
ENST00000572244.5:c.450-56_450-55delinsGC	ENSP00000461186.1:n.450-56_450-55delinsGC
ENST00000574583.5:c.532-56_532-55delinsGC	ENSP00000460269.1:n.532-56_532-55delinsGC
ENST00000576315.5:c.565-56_565-55delinsGC	ENSP00000460551.1:n.565-56_565-55delinsGC
ENST00000621655.1:c.1241_1242delinsGC	ENSP00000481436.1:n.1241_1242delinsGC
NM_000243.2:c.1760-56_1760-55delinsGC , LRG_190t1:c.1760-56_1760-55delinsGC	NP_000234.1:n.1760-56_1760-55delinsGC
NM_001198536.1:c.1246_1247delinsGC	NP_001185465.1:p.Ala416=
XM_017023236.2:c.1757-56_1757-55delinsGC	XP_016878725.1:n.1757-56_1757-55delinsGC
XR_001751903.1:n.2067-56_2067-55delinsGC
NM_000243.3:c.1760-56_1760-55delinsGC MANE Select	NP_000234.1:n.1760-56_1760-55delinsGC
NM_001198536.2:c.1246_1247delinsGC	NP_001185465.2:p.Ala416=