Canonical Allele Identifier: CA2524631392
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719796del , CM000678.2:g.88719796del GRCh38
NC_000016.9:g.88786204del , CM000678.1:g.88786204del GRCh37
NC_000016.8:g.87313705del NCBI36
NG_042229.1:g.70425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6323+6del MANE Select ENSP00000301015.9:n.6323+6del
ENST00000466823.3:c.349+6del
ENST00000301015.13:c.6323+6del ENSP00000301015.9:n.6323+6del
ENST00000419505.5:c.89+6del ENSP00000406358.1:n.89+6del
ENST00000466823.2:c.349+6del
ENST00000495568.7:n.564+6del
ENST00000497793.2:n.478+6del
NM_001142864.2:c.6323+6del NP_001136336.2:n.6323+6del
NM_001142864.3:c.6323+6del NP_001136336.2:n.6323+6del
NM_001142864.4:c.6323+6del MANE Select NP_001136336.2:n.6323+6del