Canonical Allele Identifier: CA2202659229

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3244507_3244508delinsTG , CM000678.2:g.3244507_3244508delinsTG	GRCh38
NC_000016.9:g.3294507_3294508delinsTG , CM000678.1:g.3294507_3294508delinsTG	GRCh37
NC_000016.8:g.3234508_3234509delinsTG	NCBI36
NG_007871.1:g.17120_17121delinsCA , LRG_190:g.17120_17121delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.812_813delinsCA
ENST00000219596.6:c.1691_1692delinsCA MANE Select	ENSP00000219596.1:p.Ser564=
ENST00000219596.5:c.1691_1692delinsCA	ENSP00000219596.1:p.Ser564=
ENST00000339854.8:c.1151_1152delinsCA	ENSP00000339639.4:p.Ser384=
ENST00000536379.5:c.1058_1059delinsCA	ENSP00000445079.1:p.Ser353=
ENST00000536980.5:c.1058_1059delinsCA	ENSP00000444178.1:p.Ser353=
ENST00000537682.5:c.1691_1692delinsCA	ENSP00000438611.1:p.Ser564=
ENST00000538326.5:c.*316_*317delinsCA	ENSP00000437486.1:n.*316_*317delinsCA
ENST00000539145.5:c.612_613delinsCA	ENSP00000444471.1:n.612_613delinsCA
ENST00000541159.5:c.1058_1059delinsCA	ENSP00000438711.1:p.Ser353=
ENST00000542898.5:c.1784_1785delinsCA	ENSP00000444615.1:p.Ser595=
ENST00000570511.5:c.1165-616_1165-615delinsCA	ENSP00000458312.1:n.1165-616_1165-615delinsCA
ENST00000572244.5:c.381_382delinsCA	ENSP00000461186.1:n.381_382delinsCA
ENST00000574583.5:c.532-616_532-615delinsCA	ENSP00000460269.1:n.532-616_532-615delinsCA
ENST00000576315.5:c.532-222_532-221delinsCA	ENSP00000460551.1:n.532-222_532-221delinsCA
ENST00000621655.1:c.1058_1059delinsCA	ENSP00000481436.1:p.Ser353=
NM_000243.2:c.1691_1692delinsCA , LRG_190t1:c.1691_1692delinsCA	NP_000234.1:p.Ser564=
NM_001198536.1:c.1058_1059delinsCA	NP_001185465.1:p.Ser353=
XM_017023236.2:c.1688_1689delinsCA	XP_016878725.1:p.Ser563=
XR_001751903.1:n.1880_1881delinsCA
NM_000243.3:c.1691_1692delinsCA MANE Select	NP_000234.1:p.Ser564=
NM_001198536.2:c.1058_1059delinsCA	NP_001185465.2:p.Ser353=