Canonical Allele Identifier: CA2805617285

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242851dup , CM000678.2:g.3242851dup	GRCh38
NC_000016.9:g.3292851dup , CM000678.1:g.3292851dup	GRCh37
NC_000016.8:g.3232852dup	NCBI36
NG_007871.1:g.18778dup , LRG_190:g.18778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1758dup
ENST00000219596.6:c.*291dup MANE Select	ENSP00000219596.1:n.*291dup
ENST00000219596.5:c.*291dup	ENSP00000219596.1:n.*291dup
ENST00000339854.8:c.*291dup	ENSP00000339639.4:n.*291dup
ENST00000536980.5:c.*913dup	ENSP00000444178.1:n.*913dup
ENST00000537682.5:c.*913dup	ENSP00000438611.1:n.*913dup
ENST00000538326.5:c.*1262dup	ENSP00000437486.1:n.*1262dup
ENST00000542898.5:c.*913dup	ENSP00000444615.1:n.*913dup
NM_000243.2:c.*291dup , LRG_190t1:c.*291dup	NP_000234.1:n.*291dup
NM_001198536.1:c.*841dup	NP_001185465.1:n.*841dup
NM_000243.3:c.*291dup MANE Select	NP_000234.1:n.*291dup
NM_001198536.2:c.*841dup	NP_001185465.2:n.*841dup