Canonical Allele Identifier: CA2202658364

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242878_3242879delinsCA , CM000678.2:g.3242878_3242879delinsCA	GRCh38
NC_000016.9:g.3292878_3292879delinsCA , CM000678.1:g.3292878_3292879delinsCA	GRCh37
NC_000016.8:g.3232879_3232880delinsCA	NCBI36
NG_007871.1:g.18749_18750delinsTG , LRG_190:g.18749_18750delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1729_1730delinsTG
ENST00000219596.6:c.*262_*263delinsTG MANE Select	ENSP00000219596.1:n.*262_*263delinsTG
ENST00000219596.5:c.*262_*263delinsTG	ENSP00000219596.1:n.*262_*263delinsTG
ENST00000339854.8:c.*262_*263delinsTG	ENSP00000339639.4:n.*262_*263delinsTG
ENST00000536980.5:c.*884_*885delinsTG	ENSP00000444178.1:n.*884_*885delinsTG
ENST00000537682.5:c.*884_*885delinsTG	ENSP00000438611.1:n.*884_*885delinsTG
ENST00000538326.5:c.*1233_*1234delinsTG	ENSP00000437486.1:n.*1233_*1234delinsTG
ENST00000542898.5:c.*884_*885delinsTG	ENSP00000444615.1:n.*884_*885delinsTG
NM_000243.2:c.*262_*263delinsTG , LRG_190t1:c.*262_*263delinsTG	NP_000234.1:n.*262_*263delinsTG
NM_001198536.1:c.*812_*813delinsTG	NP_001185465.1:n.*812_*813delinsTG
NM_000243.3:c.*262_*263delinsTG MANE Select	NP_000234.1:n.*262_*263delinsTG
NM_001198536.2:c.*812_*813delinsTG	NP_001185465.2:n.*812_*813delinsTG