Canonical Allele Identifier: CA624449488

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs1319890471
• gnomAD v2: 16-88799038-AC-A
• MyVariant Identifiers: chr16:g.88799039del (hg19) ; chr16:g.88732631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732633del , CM000678.2:g.88732633del	GRCh38
NC_000016.9:g.88799041del , CM000678.1:g.88799041del	GRCh37
NC_000016.8:g.87326542del	NCBI36
NG_042229.1:g.57590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2766del (PIEZO1) MANE Select	ENSP00000301015.9:p.Phe923SerfsTer?
ENST00000301015.13:c.2766del (PIEZO1)	ENSP00000301015.9:p.Phe923SerfsTer?
ENST00000490756.1:n.350del (PIEZO1)
NM_001142864.2:c.2766del (PIEZO1)	NP_001136336.2:p.Phe923SerfsTer?
NM_001142864.3:c.2766del (PIEZO1)	NP_001136336.2:p.Phe923SerfsTer?
NR_103774.1:n.269+1185del (HSALR1)
NM_001142864.4:c.2766del (PIEZO1) MANE Select	NP_001136336.2:p.Phe923SerfsTer?