Canonical Allele Identifier: CA2536443356
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719773_88719774del , CM000678.2:g.88719773_88719774del GRCh38
NC_000016.9:g.88786181_88786182del , CM000678.1:g.88786181_88786182del GRCh37
NC_000016.8:g.87313682_87313683del NCBI36
NG_042229.1:g.70447_70448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6323+28_6323+29del MANE Select ENSP00000301015.9:n.6323+28_6323+29del
ENST00000466823.3:c.349+28_349+29del
ENST00000301015.13:c.6323+28_6323+29del ENSP00000301015.9:n.6323+28_6323+29del
ENST00000419505.5:c.89+28_89+29del ENSP00000406358.1:n.89+28_89+29del
ENST00000466823.2:c.349+28_349+29del
ENST00000495568.7:n.564+28_564+29del
ENST00000497793.2:n.478+28_478+29del
NM_001142864.2:c.6323+28_6323+29del NP_001136336.2:n.6323+28_6323+29del
NM_001142864.3:c.6323+28_6323+29del NP_001136336.2:n.6323+28_6323+29del
NM_001142864.4:c.6323+28_6323+29del MANE Select NP_001136336.2:n.6323+28_6323+29del