Canonical Allele Identifier: CA725595059
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1339670545
gnomAD v3: 16-88738174-AG-A
gnomAD v4: 16-88738174-AG-A
MyVariant Identifiers: chr16:g.88804583del (hg19) chr16:g.88738175del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88738176del , CM000678.2:g.88738176del GRCh38
NC_000016.9:g.88804584del , CM000678.1:g.88804584del GRCh37
NC_000016.8:g.87332085del NCBI36
NG_042229.1:g.52046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.848+52del (PIEZO1) MANE Select ENSP00000301015.9:n.848+52del
ENST00000301015.13:c.848+52del (PIEZO1) ENSP00000301015.9:n.848+52del
NM_001142864.2:c.848+52del (PIEZO1) NP_001136336.2:n.848+52del
NM_001142864.3:c.848+52del (PIEZO1) NP_001136336.2:n.848+52del
NR_103774.1:n.625del (HSALR1)
NM_001142864.4:c.848+52del (PIEZO1) MANE Select NP_001136336.2:n.848+52del
Search 100 bp 5'
Search 100 bp 3'