Canonical Allele Identifier: CA2634870370

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719835-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719837_88719838del , CM000678.2:g.88719837_88719838del	GRCh38
NC_000016.9:g.88786245_88786246del , CM000678.1:g.88786245_88786246del	GRCh37
NC_000016.8:g.87313746_87313747del	NCBI36
NG_042229.1:g.70384_70385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6288_6289del MANE Select	ENSP00000301015.9:p.Lys2097ValfsTer?
ENST00000466823.3:c.314_315del
ENST00000301015.13:c.6288_6289del	ENSP00000301015.9:p.Lys2097ValfsTer?
ENST00000419505.5:c.54_55del	ENSP00000406358.1:p.Lys19ValfsTer?
ENST00000466823.2:c.314_315del
ENST00000495568.7:n.529_530del
ENST00000497793.2:n.443_444del
NM_001142864.2:c.6288_6289del	NP_001136336.2:p.Lys2097ValfsTer?
NM_001142864.3:c.6288_6289del	NP_001136336.2:p.Lys2097ValfsTer?
NM_001142864.4:c.6288_6289del MANE Select	NP_001136336.2:p.Lys2097ValfsTer?