Canonical Allele Identifier: CA280509
Gene: MEFV HGNC NCBI

Linked Data

dbSNP Id: rs104895091

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3243408_3243410del , CM000678.2:g.3243408_3243410del GRCh38
NC_000016.9:g.3293408_3293410del , CM000678.1:g.3293408_3293410del GRCh37
NC_000016.8:g.3233409_3233411del NCBI36
NG_007871.1:g.18222_18224del , LRG_190:g.18222_18224del

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.1202_1204del
ENST00000219596.6:c.2081_2083del MANE Select ENSP00000219596.1:p.Met694del
ENST00000219596.5:c.2081_2083del ENSP00000219596.1:p.Met694del
ENST00000339854.8:c.1541_1543del ENSP00000339639.4:p.Met514del
ENST00000536379.5:c.1448_1450del ENSP00000445079.1:p.Met483del
ENST00000536980.5:c.*357_*359del ENSP00000444178.1:n.*357_*359del
ENST00000537682.5:c.*357_*359del ENSP00000438611.1:n.*357_*359del
ENST00000538326.5:c.*706_*708del ENSP00000437486.1:n.*706_*708del
ENST00000539145.5:c.1002_1004del ENSP00000444471.1:n.1002_1004del
ENST00000541159.5:c.1623_1625del ENSP00000438711.1:n.1623_1625del
ENST00000542898.5:c.*357_*359del ENSP00000444615.1:n.*357_*359del
ENST00000570511.5:c.1486_1488del ENSP00000458312.1:n.1486_1488del
ENST00000572244.5:c.771_773del ENSP00000461186.1:n.771_773del
ENST00000574583.5:c.853_855del ENSP00000460269.1:n.853_855del
ENST00000576315.5:c.886_888del ENSP00000460551.1:n.886_888del
ENST00000621655.1:c.1618_1620del ENSP00000481436.1:n.1618_1620del
NM_000243.2:c.2081_2083del , LRG_190t1:c.2081_2083del NP_000234.1:p.Met694del
NM_001198536.1:c.*285_*287del NP_001185465.1:n.*285_*287del
XM_017023236.2:c.2078_2080del XP_016878725.1:p.Met693del
NM_000243.3:c.2081_2083del MANE Select NP_000234.1:p.Met694del
NM_001198536.2:c.*285_*287del NP_001185465.2:n.*285_*287del