Canonical Allele Identifier: CA2634870339

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719825-A-ATGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719828_88719831dup , CM000678.2:g.88719828_88719831dup	GRCh38
NC_000016.9:g.88786236_88786239dup , CM000678.1:g.88786236_88786239dup	GRCh37
NC_000016.8:g.87313737_87313740dup	NCBI36
NG_042229.1:g.70392_70395dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6296_6299dup MANE Select	ENSP00000301015.9:p.His2100GlnfsTer?
ENST00000466823.3:c.322_325dup
ENST00000301015.13:c.6296_6299dup	ENSP00000301015.9:p.His2100GlnfsTer?
ENST00000419505.5:c.62_65dup	ENSP00000406358.1:p.His22GlnfsTer?
ENST00000466823.2:c.322_325dup
ENST00000495568.7:n.537_540dup
ENST00000497793.2:n.451_454dup
NM_001142864.2:c.6296_6299dup	NP_001136336.2:p.His2100GlnfsTer?
NM_001142864.3:c.6296_6299dup	NP_001136336.2:p.His2100GlnfsTer?
NM_001142864.4:c.6296_6299dup MANE Select	NP_001136336.2:p.His2100GlnfsTer?