Canonical Allele Identifier: CA2518083555
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719761_88719762del , CM000678.2:g.88719761_88719762del GRCh38
NC_000016.9:g.88786169_88786170del , CM000678.1:g.88786169_88786170del GRCh37
NC_000016.8:g.87313670_87313671del NCBI36
NG_042229.1:g.70459_70460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6324-41_6324-40del MANE Select ENSP00000301015.9:n.6324-41_6324-40del
ENST00000466823.3:c.350-41_350-40del
ENST00000301015.13:c.6324-41_6324-40del ENSP00000301015.9:n.6324-41_6324-40del
ENST00000419505.5:c.90-41_90-40del ENSP00000406358.1:n.90-41_90-40del
ENST00000466823.2:c.350-41_350-40del
ENST00000495568.7:n.565-41_565-40del
ENST00000497793.2:n.479-41_479-40del
NM_001142864.2:c.6324-41_6324-40del NP_001136336.2:n.6324-41_6324-40del
NM_001142864.3:c.6324-41_6324-40del NP_001136336.2:n.6324-41_6324-40del
NM_001142864.4:c.6324-41_6324-40del MANE Select NP_001136336.2:n.6324-41_6324-40del