Canonical Allele Identifier: CA8232788
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs777786499
ExAC: 16:88800083 TGA / T
gnomAD v2: 16-88800083-TGA-T
gnomAD v4: 16-88733675-TGA-T
MyVariant Identifiers: chr16:g.88800084_88800085del (hg19) chr16:g.88733676_88733677del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733679_88733680del , CM000678.2:g.88733679_88733680del GRCh38
NC_000016.9:g.88800087_88800088del , CM000678.1:g.88800087_88800088del GRCh37
NC_000016.8:g.87327588_87327589del NCBI36
NG_042229.1:g.56544_56545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2398_2399del (PIEZO1) MANE Select ENSP00000301015.9:p.Ser800ThrfsTer?
ENST00000301015.13:c.2398_2399del (PIEZO1) ENSP00000301015.9:p.Ser800ThrfsTer?
NM_001142864.2:c.2398_2399del (PIEZO1) NP_001136336.2:p.Ser800ThrfsTer?
NM_001142864.3:c.2398_2399del (PIEZO1) NP_001136336.2:p.Ser800ThrfsTer?
NR_103774.1:n.269+2231_269+2232del (HSALR1)
NM_001142864.4:c.2398_2399del (PIEZO1) MANE Select NP_001136336.2:p.Ser800ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'