Canonical Allele Identifier: CA2634870084

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719719-AACCTGCCCACAGCCAGGGTTCCCGTCAGGTGGGCTCCCTCATGCCCGGGCCGTGACCCCCACCCCGGCGGACCTGCACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719723_88719802del , CM000678.2:g.88719723_88719802del	GRCh38
NC_000016.9:g.88786131_88786210del , CM000678.1:g.88786131_88786210del	GRCh37
NC_000016.8:g.87313632_87313711del	NCBI36
NG_042229.1:g.70422_70501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6323+3_6325del
ENST00000466823.3:c.349+3_351del
ENST00000301015.13:c.6323+3_6325del
ENST00000419505.5:c.89+3_91del
ENST00000466823.2:c.349+3_351del
ENST00000495568.7:n.564+3_566del
ENST00000497793.2:n.478+3_480del
NM_001142864.2:c.6323+3_6325del
NM_001142864.3:c.6323+3_6325del
NM_001142864.4:c.6323+3_6325del