Canonical Allele Identifier: CA2631333176

Gene: MEFV

Linked Data

• gnomAD v4: 16-3243010-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243013del , CM000678.2:g.3243013del	GRCh38
NC_000016.9:g.3293013del , CM000678.1:g.3293013del	GRCh37
NC_000016.8:g.3233014del	NCBI36
NG_007871.1:g.18617del , LRG_190:g.18617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1597del
ENST00000219596.6:c.*130del MANE Select	ENSP00000219596.1:n.*130del
ENST00000219596.5:c.*130del	ENSP00000219596.1:n.*130del
ENST00000339854.8:c.*130del	ENSP00000339639.4:n.*130del
ENST00000536980.5:c.*752del	ENSP00000444178.1:n.*752del
ENST00000537682.5:c.*752del	ENSP00000438611.1:n.*752del
ENST00000538326.5:c.*1101del	ENSP00000437486.1:n.*1101del
ENST00000542898.5:c.*752del	ENSP00000444615.1:n.*752del
NM_000243.2:c.*130del , LRG_190t1:c.*130del	NP_000234.1:n.*130del
NM_001198536.1:c.*680del	NP_001185465.1:n.*680del
NM_000243.3:c.*130del MANE Select	NP_000234.1:n.*130del
NM_001198536.2:c.*680del	NP_001185465.2:n.*680del