Canonical Allele Identifier: CA2634869186
Gene: PIEZO1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719558_88719569del , CM000678.2:g.88719558_88719569del GRCh38
NC_000016.9:g.88785966_88785977del , CM000678.1:g.88785966_88785977del GRCh37
NC_000016.8:g.87313467_87313478del NCBI36
NG_042229.1:g.70653_70664del

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6471+6_6471+17del MANE Select ENSP00000301015.9:n.6471+6_6471+17del
ENST00000466823.3:c.497+6_497+17del
ENST00000301015.13:c.6471+6_6471+17del ENSP00000301015.9:n.6471+6_6471+17del
ENST00000419505.5:c.237+6_237+17del ENSP00000406358.1:n.237+6_237+17del
ENST00000466823.2:c.497+6_497+17del
ENST00000495568.7:n.712+6_712+17del
ENST00000497793.2:n.632_643del
NM_001142864.2:c.6471+6_6471+17del NP_001136336.2:n.6471+6_6471+17del
NM_001142864.3:c.6471+6_6471+17del NP_001136336.2:n.6471+6_6471+17del
NM_001142864.4:c.6471+6_6471+17del MANE Select NP_001136336.2:n.6471+6_6471+17del