Canonical Allele Identifier: CA2202659092
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3244219_3244224delinsCCCAGG , CM000678.2:g.3244219_3244224delinsCCCAGG GRCh38
NC_000016.9:g.3294219_3294224delinsCCCAGG , CM000678.1:g.3294219_3294224delinsCCCAGG GRCh37
NC_000016.8:g.3234220_3234225delinsCCCAGG NCBI36
NG_007871.1:g.17404_17409delinsCCTGGG , LRG_190:g.17404_17409delinsCCTGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000697124.1:n.880+30_880+35delinsCCTGGG
ENST00000219596.6:c.1759+30_1759+35delinsCCTGGG MANE Select ENSP00000219596.1:n.1759+30_1759+35delins...
ENST00000219596.5:c.1759+30_1759+35delinsCCTGGG ENSP00000219596.1:n.1759+30_1759+35delins...
ENST00000339854.8:c.1219+30_1219+35delinsCCTGGG ENSP00000339639.4:n.1219+30_1219+35delins...
ENST00000536379.5:c.1126+30_1126+35delinsCCTGGG ENSP00000445079.1:n.1126+30_1126+35delins...
ENST00000536980.5:c.1156_1161delinsCCTGGG ENSP00000444178.1:p.Pro386=
ENST00000537682.5:c.1789_1794delinsCCTGGG ENSP00000438611.1:p.Pro597=
ENST00000538326.5:c.*384+30_*384+35delinsCCTGGG ENSP00000437486.1:n.*384+30_*384+35delins...
ENST00000539145.5:c.680+30_680+35delinsCCTGGG ENSP00000444471.1:n.680+30_680+35delinsCC...
ENST00000541159.5:c.1126+30_1126+35delinsCCTGGG ENSP00000438711.1:n.1126+30_1126+35delins...
ENST00000542898.5:c.1882_1887delinsCCTGGG ENSP00000444615.1:p.Pro628=
ENST00000570511.5:c.1165-332_1165-327delinsCCTGGG ENSP00000458312.1:n.1165-332_1165-327deli...
ENST00000572244.5:c.449+30_449+35delinsCCTGGG ENSP00000461186.1:n.449+30_449+35delinsCC...
ENST00000574583.5:c.532-332_532-327delinsCCTGGG ENSP00000460269.1:n.532-332_532-327delins...
ENST00000576315.5:c.564+30_564+35delinsCCTGGG ENSP00000460551.1:n.564+30_564+35delinsCC...
ENST00000621655.1:c.1126+30_1126+35delinsCCTGGG ENSP00000481436.1:n.1126+30_1126+35delins...
NM_000243.2:c.1759+30_1759+35delinsCCTGGG , LRG_190t1:c.1759+30_1759+35delinsCCTGGG NP_000234.1:n.1759+30_1759+35delinsCCTGGG...
NM_001198536.1:c.1126+30_1126+35delinsCCTGGG NP_001185465.1:n.1126+30_1126+35delinsCCT...
XM_017023236.2:c.1756+30_1756+35delinsCCTGGG XP_016878725.1:n.1756+30_1756+35delinsCCT...
XR_001751903.1:n.1978_1983delinsCCTGGG
NM_000243.3:c.1759+30_1759+35delinsCCTGGG MANE Select NP_000234.1:n.1759+30_1759+35delinsCCTGGG...
NM_001198536.2:c.1126+30_1126+35delinsCCTGGG NP_001185465.2:n.1126+30_1126+35delinsCCT...