Canonical Allele Identifier: CA2631332829

Gene: MEFV

Linked Data

• gnomAD v4: 16-3242887-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3242889del , CM000678.2:g.3242889del	GRCh38
NC_000016.9:g.3292889del , CM000678.1:g.3292889del	GRCh37
NC_000016.8:g.3232890del	NCBI36
NG_007871.1:g.18740del , LRG_190:g.18740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697124.1:n.1720del
ENST00000219596.6:c.*253del MANE Select	ENSP00000219596.1:n.*253del
ENST00000219596.5:c.*253del	ENSP00000219596.1:n.*253del
ENST00000339854.8:c.*253del	ENSP00000339639.4:n.*253del
ENST00000536980.5:c.*875del	ENSP00000444178.1:n.*875del
ENST00000537682.5:c.*875del	ENSP00000438611.1:n.*875del
ENST00000538326.5:c.*1224del	ENSP00000437486.1:n.*1224del
ENST00000542898.5:c.*875del	ENSP00000444615.1:n.*875del
NM_000243.2:c.*253del , LRG_190t1:c.*253del	NP_000234.1:n.*253del
NM_001198536.1:c.*803del	NP_001185465.1:n.*803del
NM_000243.3:c.*253del MANE Select	NP_000234.1:n.*253del
NM_001198536.2:c.*803del	NP_001185465.2:n.*803del