Canonical Allele Identifier: CA624448964

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1196087944
• gnomAD v2: 16-88786035-CCA-C
• gnomAD v3: 16-88719627-CCA-C
• gnomAD v4: 16-88719627-CCA-C
• MyVariant Identifiers: chr16:g.88786036_88786037del (hg19) ; chr16:g.88719628_88719629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719634_88719635del , CM000678.2:g.88719634_88719635del	GRCh38
NC_000016.9:g.88786042_88786043del , CM000678.1:g.88786042_88786043del	GRCh37
NC_000016.8:g.87313543_87313544del	NCBI36
NG_042229.1:g.70592_70593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6416_6417del MANE Select	ENSP00000301015.9:p.Val2139GlyfsTer?
ENST00000466823.3:c.442_443del
ENST00000301015.13:c.6416_6417del	ENSP00000301015.9:p.Val2139GlyfsTer?
ENST00000419505.5:c.182_183del	ENSP00000406358.1:p.Val61GlyfsTer21
ENST00000466823.2:c.442_443del
ENST00000495568.7:n.657_658del
ENST00000497793.2:n.571_572del
NM_001142864.2:c.6416_6417del	NP_001136336.2:p.Val2139GlyfsTer?
NM_001142864.3:c.6416_6417del	NP_001136336.2:p.Val2139GlyfsTer?
NM_001142864.4:c.6416_6417del MANE Select	NP_001136336.2:p.Val2139GlyfsTer?