Canonical Allele Identifier: CA2634878374

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88732616-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732619del , CM000678.2:g.88732619del	GRCh38
NC_000016.9:g.88799027del , CM000678.1:g.88799027del	GRCh37
NC_000016.8:g.87326528del	NCBI36
NG_042229.1:g.57604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2780del (PIEZO1) MANE Select	ENSP00000301015.9:p.Gly927AlafsTer?
ENST00000301015.13:c.2780del (PIEZO1)	ENSP00000301015.9:p.Gly927AlafsTer?
ENST00000490756.1:n.364del (PIEZO1)
NM_001142864.2:c.2780del (PIEZO1)	NP_001136336.2:p.Gly927AlafsTer?
NM_001142864.3:c.2780del (PIEZO1)	NP_001136336.2:p.Gly927AlafsTer?
NR_103774.1:n.269+1171del (HSALR1)
NM_001142864.4:c.2780del (PIEZO1) MANE Select	NP_001136336.2:p.Gly927AlafsTer?