Canonical Allele Identifier: CA2631332695

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242855-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242856del , CM000678.2:g.3242856del	GRCh38
NC_000016.9:g.3292856del , CM000678.1:g.3292856del	GRCh37
NC_000016.8:g.3232857del	NCBI36
NG_007871.1:g.18772del , LRG_190:g.18772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1752del
ENST00000219596.6:c.*285del MANE Select	ENSP00000219596.1:n.*285del
ENST00000219596.5:c.*285del	ENSP00000219596.1:n.*285del
ENST00000339854.8:c.*285del	ENSP00000339639.4:n.*285del
ENST00000536980.5:c.*907del	ENSP00000444178.1:n.*907del
ENST00000537682.5:c.*907del	ENSP00000438611.1:n.*907del
ENST00000538326.5:c.*1256del	ENSP00000437486.1:n.*1256del
ENST00000542898.5:c.*907del	ENSP00000444615.1:n.*907del
NM_000243.2:c.*285del , LRG_190t1:c.*285del	NP_000234.1:n.*285del
NM_001198536.1:c.*835del	NP_001185465.1:n.*835del
NM_000243.3:c.*285del MANE Select	NP_000234.1:n.*285del
NM_001198536.2:c.*835del	NP_001185465.2:n.*835del