Canonical Allele Identifier: CA980337025

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1912294377
• gnomAD v3: 16-88719727-CACA-C
• gnomAD v4: 16-88719727-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719728_88719730del , CM000678.2:g.88719728_88719730del	GRCh38
NC_000016.9:g.88786136_88786138del , CM000678.1:g.88786136_88786138del	GRCh37
NC_000016.8:g.87313637_87313639del	NCBI36
NG_042229.1:g.70491_70493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6324-9_6324-7del MANE Select	ENSP00000301015.9:n.6324-9_6324-7del
ENST00000466823.3:c.350-9_350-7del
ENST00000301015.13:c.6324-9_6324-7del	ENSP00000301015.9:n.6324-9_6324-7del
ENST00000419505.5:c.90-9_90-7del	ENSP00000406358.1:n.90-9_90-7del
ENST00000466823.2:c.350-9_350-7del
ENST00000495568.7:n.565-9_565-7del
ENST00000497793.2:n.479-9_479-7del
NM_001142864.2:c.6324-9_6324-7del	NP_001136336.2:n.6324-9_6324-7del
NM_001142864.3:c.6324-9_6324-7del	NP_001136336.2:n.6324-9_6324-7del
NM_001142864.4:c.6324-9_6324-7del MANE Select	NP_001136336.2:n.6324-9_6324-7del