Canonical Allele Identifier: CA2536444565

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719673_88719674del , CM000678.2:g.88719673_88719674del	GRCh38
NC_000016.9:g.88786081_88786082del , CM000678.1:g.88786081_88786082del	GRCh37
NC_000016.8:g.87313582_87313583del	NCBI36
NG_042229.1:g.70548_70549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6372_6373del MANE Select	ENSP00000301015.9:p.Trp2124CysfsTer?
ENST00000466823.3:c.398_399del
ENST00000301015.13:c.6372_6373del	ENSP00000301015.9:p.Trp2124CysfsTer?
ENST00000419505.5:c.138_139del	ENSP00000406358.1:p.Trp46CysfsTer?
ENST00000466823.2:c.398_399del
ENST00000495568.7:n.613_614del
ENST00000497793.2:n.527_528del
NM_001142864.2:c.6372_6373del	NP_001136336.2:p.Trp2124CysfsTer?
NM_001142864.3:c.6372_6373del	NP_001136336.2:p.Trp2124CysfsTer?
NM_001142864.4:c.6372_6373del MANE Select	NP_001136336.2:p.Trp2124CysfsTer?