Canonical Allele Identifier: CA2202659240

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244526_3244527delinsTG , CM000678.2:g.3244526_3244527delinsTG	GRCh38
NC_000016.9:g.3294526_3294527delinsTG , CM000678.1:g.3294526_3294527delinsTG	GRCh37
NC_000016.8:g.3234527_3234528delinsTG	NCBI36
NG_007871.1:g.17101_17102delinsCA , LRG_190:g.17101_17102delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.793_794delinsCA
ENST00000219596.6:c.1672_1673delinsCA MANE Select	ENSP00000219596.1:p.Gln558=
ENST00000219596.5:c.1672_1673delinsCA	ENSP00000219596.1:p.Gln558=
ENST00000339854.8:c.1132_1133delinsCA	ENSP00000339639.4:p.Gln378=
ENST00000536379.5:c.1039_1040delinsCA	ENSP00000445079.1:p.Gln347=
ENST00000536980.5:c.1039_1040delinsCA	ENSP00000444178.1:p.Gln347=
ENST00000537682.5:c.1672_1673delinsCA	ENSP00000438611.1:p.Gln558=
ENST00000538326.5:c.*297_*298delinsCA	ENSP00000437486.1:n.*297_*298delinsCA
ENST00000539145.5:c.593_594delinsCA	ENSP00000444471.1:n.593_594delinsCA
ENST00000541159.5:c.1039_1040delinsCA	ENSP00000438711.1:p.Gln347=
ENST00000542898.5:c.1765_1766delinsCA	ENSP00000444615.1:p.Gln589=
ENST00000570511.5:c.1165-635_1165-634delinsCA	ENSP00000458312.1:n.1165-635_1165-634delinsCA
ENST00000572244.5:c.362_363delinsCA	ENSP00000461186.1:n.362_363delinsCA
ENST00000574583.5:c.532-635_532-634delinsCA	ENSP00000460269.1:n.532-635_532-634delinsCA
ENST00000576315.5:c.532-241_532-240delinsCA	ENSP00000460551.1:n.532-241_532-240delinsCA
ENST00000621655.1:c.1039_1040delinsCA	ENSP00000481436.1:p.Gln347=
NM_000243.2:c.1672_1673delinsCA , LRG_190t1:c.1672_1673delinsCA	NP_000234.1:p.Gln558=
NM_001198536.1:c.1039_1040delinsCA	NP_001185465.1:p.Gln347=
XM_017023236.2:c.1669_1670delinsCA	XP_016878725.1:p.Gln557=
XR_001751903.1:n.1861_1862delinsCA
NM_000243.3:c.1672_1673delinsCA MANE Select	NP_000234.1:p.Gln558=
NM_001198536.2:c.1039_1040delinsCA	NP_001185465.2:p.Gln347=