Canonical Allele Identifier: CA8232695
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs780165835
ExAC: 16:88798916 CCAG / C
gnomAD v2: 16-88798916-CCAG-C
gnomAD v4: 16-88732508-CCAG-C
MyVariant Identifiers: chr16:g.88798917_88798919del (hg19) chr16:g.88732509_88732511del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732520_88732522del , CM000678.2:g.88732520_88732522del GRCh38
NC_000016.9:g.88798928_88798930del , CM000678.1:g.88798928_88798930del GRCh37
NC_000016.8:g.87326429_87326431del NCBI36
NG_042229.1:g.57710_57712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2815_2817del (PIEZO1) MANE Select ENSP00000301015.9:p.Leu939del
ENST00000301015.13:c.2815_2817del (PIEZO1) ENSP00000301015.9:p.Leu939del
ENST00000490756.1:n.399_401del (PIEZO1)
NM_001142864.2:c.2815_2817del (PIEZO1) NP_001136336.2:p.Leu939del
NM_001142864.3:c.2815_2817del (PIEZO1) NP_001136336.2:p.Leu939del
NR_103774.1:n.269+1072_269+1074del (HSALR1)
NM_001142864.4:c.2815_2817del (PIEZO1) MANE Select NP_001136336.2:p.Leu939del
Search 100 bp 5'
Search 100 bp 3'