Canonical Allele Identifier: CA2695223865

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719579_88719580del , CM000678.2:g.88719579_88719580del	GRCh38
NC_000016.9:g.88785987_88785988del , CM000678.1:g.88785987_88785988del	GRCh37
NC_000016.8:g.87313488_87313489del	NCBI36
NG_042229.1:g.70644_70645del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6468_6469del MANE Select	ENSP00000301015.9:p.Lys2157GlufsTer?
ENST00000466823.3:c.494_495del
ENST00000301015.13:c.6468_6469del	ENSP00000301015.9:p.Lys2157GlufsTer?
ENST00000419505.5:c.234_235del	ENSP00000406358.1:p.Lys79GlyfsTer3
ENST00000466823.2:c.494_495del
ENST00000495568.7:n.709_710del
ENST00000497793.2:n.623_624del
NM_001142864.2:c.6468_6469del	NP_001136336.2:p.Lys2157GlufsTer?
NM_001142864.3:c.6468_6469del	NP_001136336.2:p.Lys2157GlufsTer?
NM_001142864.4:c.6468_6469del MANE Select	NP_001136336.2:p.Lys2157GlufsTer?