Canonical Allele Identifier: CA2576092927

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732472dup , CM000678.2:g.88732472dup	GRCh38
NC_000016.9:g.88798880dup , CM000678.1:g.88798880dup	GRCh37
NC_000016.8:g.87326381dup	NCBI36
NG_042229.1:g.57749dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2854dup (PIEZO1) MANE Select	ENSP00000301015.9:p.Tyr952LeufsTer?
ENST00000301015.13:c.2854dup (PIEZO1)	ENSP00000301015.9:p.Tyr952LeufsTer?
ENST00000490756.1:n.438dup (PIEZO1)
NM_001142864.2:c.2854dup (PIEZO1)	NP_001136336.2:p.Tyr952LeufsTer?
NM_001142864.3:c.2854dup (PIEZO1)	NP_001136336.2:p.Tyr952LeufsTer?
NR_103774.1:n.269+1024dup (HSALR1)
NM_001142864.4:c.2854dup (PIEZO1) MANE Select	NP_001136336.2:p.Tyr952LeufsTer?