Canonical Allele Identifier: CA2570257056
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719778_88719779insGTGC , CM000678.2:g.88719778_88719779insGTGC GRCh38
NC_000016.9:g.88786186_88786187insGTGC , CM000678.1:g.88786186_88786187insGTGC GRCh37
NC_000016.8:g.87313687_87313688insGTGC NCBI36
NG_042229.1:g.70443_70444insCACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6323+24_6323+25insCACG MANE Select ENSP00000301015.9:n.6323+24_6323+25insCACG
ENST00000466823.3:c.349+24_349+25insCACG
ENST00000301015.13:c.6323+24_6323+25insCACG ENSP00000301015.9:n.6323+24_6323+25insCACG
ENST00000419505.5:c.89+24_89+25insCACG ENSP00000406358.1:n.89+24_89+25insCACG
ENST00000466823.2:c.349+24_349+25insCACG
ENST00000495568.7:n.564+24_564+25insCACG
ENST00000497793.2:n.478+24_478+25insCACG
NM_001142864.2:c.6323+24_6323+25insCACG NP_001136336.2:n.6323+24_6323+25insCACG
NM_001142864.3:c.6323+24_6323+25insCACG NP_001136336.2:n.6323+24_6323+25insCACG
NM_001142864.4:c.6323+24_6323+25insCACG MANE Select NP_001136336.2:n.6323+24_6323+25insCACG