Canonical Allele Identifier: CA2631332730

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242862-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242863del , CM000678.2:g.3242863del	GRCh38
NC_000016.9:g.3292863del , CM000678.1:g.3292863del	GRCh37
NC_000016.8:g.3232864del	NCBI36
NG_007871.1:g.18765del , LRG_190:g.18765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1745del
ENST00000219596.6:c.*278del MANE Select	ENSP00000219596.1:n.*278del
ENST00000219596.5:c.*278del	ENSP00000219596.1:n.*278del
ENST00000339854.8:c.*278del	ENSP00000339639.4:n.*278del
ENST00000536980.5:c.*900del	ENSP00000444178.1:n.*900del
ENST00000537682.5:c.*900del	ENSP00000438611.1:n.*900del
ENST00000538326.5:c.*1249del	ENSP00000437486.1:n.*1249del
ENST00000542898.5:c.*900del	ENSP00000444615.1:n.*900del
NM_000243.2:c.*278del , LRG_190t1:c.*278del	NP_000234.1:n.*278del
NM_001198536.1:c.*828del	NP_001185465.1:n.*828del
NM_000243.3:c.*278del MANE Select	NP_000234.1:n.*278del
NM_001198536.2:c.*828del	NP_001185465.2:n.*828del