Canonical Allele Identifier: CA2631332793

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242879-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242883del , CM000678.2:g.3242883del	GRCh38
NC_000016.9:g.3292883del , CM000678.1:g.3292883del	GRCh37
NC_000016.8:g.3232884del	NCBI36
NG_007871.1:g.18748del , LRG_190:g.18748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1728del
ENST00000219596.6:c.*261del MANE Select	ENSP00000219596.1:n.*261del
ENST00000219596.5:c.*261del	ENSP00000219596.1:n.*261del
ENST00000339854.8:c.*261del	ENSP00000339639.4:n.*261del
ENST00000536980.5:c.*883del	ENSP00000444178.1:n.*883del
ENST00000537682.5:c.*883del	ENSP00000438611.1:n.*883del
ENST00000538326.5:c.*1232del	ENSP00000437486.1:n.*1232del
ENST00000542898.5:c.*883del	ENSP00000444615.1:n.*883del
NM_000243.2:c.*261del , LRG_190t1:c.*261del	NP_000234.1:n.*261del
NM_001198536.1:c.*811del	NP_001185465.1:n.*811del
NM_000243.3:c.*261del MANE Select	NP_000234.1:n.*261del
NM_001198536.2:c.*811del	NP_001185465.2:n.*811del