Canonical Allele Identifier: CA2241244185

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1912282242
• gnomAD v4: 16-88719596-TTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719603_88719605del , CM000678.2:g.88719603_88719605del	GRCh38
NC_000016.9:g.88786011_88786013del , CM000678.1:g.88786011_88786013del	GRCh37
NC_000016.8:g.87313512_87313514del	NCBI36
NG_042229.1:g.70622_70624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6446_6448del MANE Select	ENSP00000301015.9:p.Ile2149del
ENST00000466823.3:c.472_474del
ENST00000301015.13:c.6446_6448del	ENSP00000301015.9:p.Ile2149del
ENST00000419505.5:c.212_214del	ENSP00000406358.1:p.Ile71del
ENST00000466823.2:c.472_474del
ENST00000495568.7:n.687_689del
ENST00000497793.2:n.601_603del
NM_001142864.2:c.6446_6448del	NP_001136336.2:p.Ile2149del
NM_001142864.3:c.6446_6448del	NP_001136336.2:p.Ile2149del
NM_001142864.4:c.6446_6448del MANE Select	NP_001136336.2:p.Ile2149del