Canonical Allele Identifier: CA2631357432

Gene: MEFV

Linked Data

• gnomAD v4: 16-3256628-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3256630del , CM000678.2:g.3256630del	GRCh38
NC_000016.9:g.3306630del , CM000678.1:g.3306630del	GRCh37
NC_000016.8:g.3246631del	NCBI36
NG_007871.1:g.4999del , LRG_190:g.4999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.-42del MANE Select	ENSP00000219596.1:n.-42del
XM_017023236.2:c.-42del	XP_016878725.1:n.-42del
XR_001751903.1:n.148del
NM_000243.3:c.-42del MANE Select	NP_000234.1:n.-42del
NM_001198536.2:c.-42del	NP_001185465.2:n.-42del