Canonical Allele Identifier: CA2518204840
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719766_88719767insTGA , CM000678.2:g.88719766_88719767insTGA GRCh38
NC_000016.9:g.88786174_88786175insTGA , CM000678.1:g.88786174_88786175insTGA GRCh37
NC_000016.8:g.87313675_87313676insTGA NCBI36
NG_042229.1:g.70454_70455insTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6323+35_6323+36insTCA MANE Select ENSP00000301015.9:n.6323+35_6323+36insTCA
ENST00000466823.3:c.349+35_349+36insTCA
ENST00000301015.13:c.6323+35_6323+36insTCA ENSP00000301015.9:n.6323+35_6323+36insTCA
ENST00000419505.5:c.89+35_89+36insTCA ENSP00000406358.1:n.89+35_89+36insTCA
ENST00000466823.2:c.349+35_349+36insTCA
ENST00000495568.7:n.564+35_564+36insTCA
ENST00000497793.2:n.478+35_478+36insTCA
NM_001142864.2:c.6323+35_6323+36insTCA NP_001136336.2:n.6323+35_6323+36insTCA
NM_001142864.3:c.6323+35_6323+36insTCA NP_001136336.2:n.6323+35_6323+36insTCA
NM_001142864.4:c.6323+35_6323+36insTCA MANE Select NP_001136336.2:n.6323+35_6323+36insTCA