Canonical Allele Identifier: CA2631333210

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243032-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243037del , CM000678.2:g.3243037del	GRCh38
NC_000016.9:g.3293037del , CM000678.1:g.3293037del	GRCh37
NC_000016.8:g.3233038del	NCBI36
NG_007871.1:g.18595del , LRG_190:g.18595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1575del
ENST00000219596.6:c.*108del MANE Select	ENSP00000219596.1:n.*108del
ENST00000219596.5:c.*108del	ENSP00000219596.1:n.*108del
ENST00000339854.8:c.*108del	ENSP00000339639.4:n.*108del
ENST00000536980.5:c.*730del	ENSP00000444178.1:n.*730del
ENST00000537682.5:c.*730del	ENSP00000438611.1:n.*730del
ENST00000538326.5:c.*1079del	ENSP00000437486.1:n.*1079del
ENST00000542898.5:c.*730del	ENSP00000444615.1:n.*730del
NM_000243.2:c.*108del , LRG_190t1:c.*108del	NP_000234.1:n.*108del
NM_001198536.1:c.*658del	NP_001185465.1:n.*658del
NM_000243.3:c.*108del MANE Select	NP_000234.1:n.*108del
NM_001198536.2:c.*658del	NP_001185465.2:n.*658del