Canonical Allele Identifier: CA2576092588

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719833-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719837_88719839del , CM000678.2:g.88719837_88719839del	GRCh38
NC_000016.9:g.88786245_88786247del , CM000678.1:g.88786245_88786247del	GRCh37
NC_000016.8:g.87313746_87313748del	NCBI36
NG_042229.1:g.70385_70387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6289_6291del MANE Select	ENSP00000301015.9:p.Lys2097del
ENST00000466823.3:c.315_317del
ENST00000301015.13:c.6289_6291del	ENSP00000301015.9:p.Lys2097del
ENST00000419505.5:c.55_57del	ENSP00000406358.1:p.Lys19del
ENST00000466823.2:c.315_317del
ENST00000495568.7:n.530_532del
ENST00000497793.2:n.444_446del
NM_001142864.2:c.6289_6291del	NP_001136336.2:p.Lys2097del
NM_001142864.3:c.6289_6291del	NP_001136336.2:p.Lys2097del
NM_001142864.4:c.6289_6291del MANE Select	NP_001136336.2:p.Lys2097del