Canonical Allele Identifier: CA2831039569

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719606_88719608del , CM000678.2:g.88719606_88719608del	GRCh38
NC_000016.9:g.88786014_88786016del , CM000678.1:g.88786014_88786016del	GRCh37
NC_000016.8:g.87313515_87313517del	NCBI36
NG_042229.1:g.70615_70617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6439_6441del MANE Select	ENSP00000301015.9:p.Phe2147del
ENST00000466823.3:c.465_467del
ENST00000301015.13:c.6439_6441del	ENSP00000301015.9:p.Phe2147del
ENST00000419505.5:c.205_207del	ENSP00000406358.1:p.Phe69del
ENST00000466823.2:c.465_467del
ENST00000495568.7:n.680_682del
ENST00000497793.2:n.594_596del
NM_001142864.2:c.6439_6441del	NP_001136336.2:p.Phe2147del
NM_001142864.3:c.6439_6441del	NP_001136336.2:p.Phe2147del
NM_001142864.4:c.6439_6441del MANE Select	NP_001136336.2:p.Phe2147del