Canonical Allele Identifier: CA2634878375

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88732641-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732645del , CM000678.2:g.88732645del	GRCh38
NC_000016.9:g.88799053del , CM000678.1:g.88799053del	GRCh37
NC_000016.8:g.87326554del	NCBI36
NG_042229.1:g.57579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2755del (PIEZO1) MANE Select	ENSP00000301015.9:p.Val919CysfsTer?
ENST00000301015.13:c.2755del (PIEZO1)	ENSP00000301015.9:p.Val919CysfsTer?
ENST00000490756.1:n.339del (PIEZO1)
NM_001142864.2:c.2755del (PIEZO1)	NP_001136336.2:p.Val919CysfsTer?
NM_001142864.3:c.2755del (PIEZO1)	NP_001136336.2:p.Val919CysfsTer?
NR_103774.1:n.269+1197del (HSALR1)
NM_001142864.4:c.2755del (PIEZO1) MANE Select	NP_001136336.2:p.Val919CysfsTer?