Canonical Allele Identifier: CA2529771539
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719786_88719791del , CM000678.2:g.88719786_88719791del GRCh38
NC_000016.9:g.88786194_88786199del , CM000678.1:g.88786194_88786199del GRCh37
NC_000016.8:g.87313695_87313700del NCBI36
NG_042229.1:g.70430_70435del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6323+11_6323+16del MANE Select ENSP00000301015.9:n.6323+11_6323+16del
ENST00000466823.3:c.349+11_349+16del
ENST00000301015.13:c.6323+11_6323+16del ENSP00000301015.9:n.6323+11_6323+16del
ENST00000419505.5:c.89+11_89+16del ENSP00000406358.1:n.89+11_89+16del
ENST00000466823.2:c.349+11_349+16del
ENST00000495568.7:n.564+11_564+16del
ENST00000497793.2:n.478+11_478+16del
NM_001142864.2:c.6323+11_6323+16del NP_001136336.2:n.6323+11_6323+16del
NM_001142864.3:c.6323+11_6323+16del NP_001136336.2:n.6323+11_6323+16del
NM_001142864.4:c.6323+11_6323+16del MANE Select NP_001136336.2:n.6323+11_6323+16del