Canonical Allele Identifier: CA2202658337
Gene: MEFV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3242842_3242845delinsATCT , CM000678.2:g.3242842_3242845delinsATCT GRCh38
NC_000016.9:g.3292842_3292845delinsATCT , CM000678.1:g.3292842_3292845delinsATCT GRCh37
NC_000016.8:g.3232843_3232846delinsATCT NCBI36
NG_007871.1:g.18783_18786delinsAGAT , LRG_190:g.18783_18786delinsAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697124.1:n.1763_1766delinsAGAT
ENST00000219596.6:c.*296_*299delinsAGAT MANE Select ENSP00000219596.1:n.*296_*299delinsAGAT
ENST00000219596.5:c.*296_*299delinsAGAT ENSP00000219596.1:n.*296_*299delinsAGAT
ENST00000339854.8:c.*296_*299delinsAGAT ENSP00000339639.4:n.*296_*299delinsAGAT
ENST00000536980.5:c.*918_*921delinsAGAT ENSP00000444178.1:n.*918_*921delinsAGAT
ENST00000537682.5:c.*918_*921delinsAGAT ENSP00000438611.1:n.*918_*921delinsAGAT
ENST00000538326.5:c.*1267_*1270delinsAGAT ENSP00000437486.1:n.*1267_*1270delinsAGAT
ENST00000542898.5:c.*918_*921delinsAGAT ENSP00000444615.1:n.*918_*921delinsAGAT
NM_000243.2:c.*296_*299delinsAGAT , LRG_190t1:c.*296_*299delinsAGAT NP_000234.1:n.*296_*299delinsAGAT
NM_001198536.1:c.*846_*849delinsAGAT NP_001185465.1:n.*846_*849delinsAGAT
NM_000243.3:c.*296_*299delinsAGAT MANE Select NP_000234.1:n.*296_*299delinsAGAT
NM_001198536.2:c.*846_*849delinsAGAT NP_001185465.2:n.*846_*849delinsAGAT