Canonical Allele Identifier: CA2503432903
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719765_88719766insAA , CM000678.2:g.88719765_88719766insAA GRCh38
NC_000016.9:g.88786173_88786174insAA , CM000678.1:g.88786173_88786174insAA GRCh37
NC_000016.8:g.87313674_87313675insAA NCBI36
NG_042229.1:g.70455_70456insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6323+36_6323+37insTT MANE Select ENSP00000301015.9:n.6323+36_6323+37insTT
ENST00000466823.3:c.349+36_349+37insTT
ENST00000301015.13:c.6323+36_6323+37insTT ENSP00000301015.9:n.6323+36_6323+37insTT
ENST00000419505.5:c.89+36_89+37insTT ENSP00000406358.1:n.89+36_89+37insTT
ENST00000466823.2:c.349+36_349+37insTT
ENST00000495568.7:n.564+36_564+37insTT
ENST00000497793.2:n.478+36_478+37insTT
NM_001142864.2:c.6323+36_6323+37insTT NP_001136336.2:n.6323+36_6323+37insTT
NM_001142864.3:c.6323+36_6323+37insTT NP_001136336.2:n.6323+36_6323+37insTT
NM_001142864.4:c.6323+36_6323+37insTT MANE Select NP_001136336.2:n.6323+36_6323+37insTT