Canonical Allele Identifier: CA624449473

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs1567670812
• gnomAD v2: 16-88798993-GC-G
• gnomAD v4: 16-88732585-GC-G
• MyVariant Identifiers: chr16:g.88798994del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732588del , CM000678.2:g.88732588del	GRCh38
NC_000016.9:g.88798996del , CM000678.1:g.88798996del	GRCh37
NC_000016.8:g.87326497del	NCBI36
NG_042229.1:g.57635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2790+21del (PIEZO1) MANE Select	ENSP00000301015.9:n.2790+21del
ENST00000301015.13:c.2790+21del (PIEZO1)	ENSP00000301015.9:n.2790+21del
ENST00000490756.1:n.374+21del (PIEZO1)
NM_001142864.2:c.2790+21del (PIEZO1)	NP_001136336.2:n.2790+21del
NM_001142864.3:c.2790+21del (PIEZO1)	NP_001136336.2:n.2790+21del
NR_103774.1:n.269+1140del (HSALR1)
NM_001142864.4:c.2790+21del (PIEZO1) MANE Select	NP_001136336.2:n.2790+21del