Canonical Allele Identifier: CA2202658522

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243173_3243177delinsTAGTC , CM000678.2:g.3243173_3243177delinsTAGTC	GRCh38
NC_000016.9:g.3293173_3293177delinsTAGTC , CM000678.1:g.3293173_3293177delinsTAGTC	GRCh37
NC_000016.8:g.3233174_3233178delinsTAGTC	NCBI36
NG_007871.1:g.18451_18455delinsGACTA , LRG_190:g.18451_18455delinsGACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1431_1435delinsGACTA
ENST00000219596.6:c.2310_2314delinsGACTA MANE Select	ENSP00000219596.1:p.Leu770=
ENST00000219596.5:c.2310_2314delinsGACTA	ENSP00000219596.1:p.Leu770=
ENST00000339854.8:c.1770_1774delinsGACTA	ENSP00000339639.4:p.Leu590=
ENST00000536379.5:c.1677_1681delinsGACTA	ENSP00000445079.1:p.Leu559=
ENST00000536980.5:c.*586_*590delinsGACTA	ENSP00000444178.1:n.*586_*590delinsGACTA
ENST00000537682.5:c.*586_*590delinsGACTA	ENSP00000438611.1:n.*586_*590delinsGACTA
ENST00000538326.5:c.*935_*939delinsGACTA	ENSP00000437486.1:n.*935_*939delinsGACTA
ENST00000539145.5:c.1231_1235delinsGACTA	ENSP00000444471.1:n.1231_1235delinsGACTA
ENST00000541159.5:c.1852_1856delinsGACTA	ENSP00000438711.1:n.1852_1856delinsGACTA
ENST00000542898.5:c.*586_*590delinsGACTA	ENSP00000444615.1:n.*586_*590delinsGACTA
ENST00000570511.5:c.1715_1719delinsGACTA	ENSP00000458312.1:n.1715_1719delinsGACTA
ENST00000572244.5:c.1000_1004delinsGACTA	ENSP00000461186.1:n.1000_1004delinsGACTA
ENST00000574583.5:c.1082_1086delinsGACTA	ENSP00000460269.1:n.1082_1086delinsGACTA
ENST00000576315.5:c.1115_1119delinsGACTA	ENSP00000460551.1:n.1115_1119delinsGACTA
ENST00000621655.1:c.1847_1851delinsGACTA	ENSP00000481436.1:n.1847_1851delinsGACTA
NM_000243.2:c.2310_2314delinsGACTA , LRG_190t1:c.2310_2314delinsGACTA	NP_000234.1:p.Leu770=
NM_001198536.1:c.*514_*518delinsGACTA	NP_001185465.1:n.*514_*518delinsGACTA
XM_017023236.2:c.2307_2311delinsGACTA	XP_016878725.1:p.Leu769=
NM_000243.3:c.2310_2314delinsGACTA MANE Select	NP_000234.1:p.Leu770=
NM_001198536.2:c.*514_*518delinsGACTA	NP_001185465.2:n.*514_*518delinsGACTA