Canonical Allele Identifier: CA2634870315

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719814-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719814_88719815insG , CM000678.2:g.88719814_88719815insG	GRCh38
NC_000016.9:g.88786222_88786223insG , CM000678.1:g.88786222_88786223insG	GRCh37
NC_000016.8:g.87313723_87313724insG	NCBI36
NG_042229.1:g.70406_70407insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6310_6311insC MANE Select	ENSP00000301015.9:p.Phe2104SerfsTer?
ENST00000466823.3:c.336_337insC
ENST00000301015.13:c.6310_6311insC	ENSP00000301015.9:p.Phe2104SerfsTer?
ENST00000419505.5:c.76_77insC	ENSP00000406358.1:p.Phe26SerfsTer?
ENST00000466823.2:c.336_337insC
ENST00000495568.7:n.551_552insC
ENST00000497793.2:n.465_466insC
NM_001142864.2:c.6310_6311insC	NP_001136336.2:p.Phe2104SerfsTer?
NM_001142864.3:c.6310_6311insC	NP_001136336.2:p.Phe2104SerfsTer?
NM_001142864.4:c.6310_6311insC MANE Select	NP_001136336.2:p.Phe2104SerfsTer?