Canonical Allele Identifier: CA8232833
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2156567
ClinVar RCV Id: RCV003075529 RCV003943760
dbSNP Id: rs144777557
ExAC: 16:88800395 C / CCTG
gnomAD v2: 16-88800395-C-CCTG
gnomAD v3: 16-88733987-C-CCTG
gnomAD v4: 16-88733987-C-CCTG
MyVariant Identifiers: chr16:g.88800398_88800399insCTG (hg19) chr16:g.88800395_88800396insCTG (hg19) chr16:g.88733990_88733991insCTG (hg38) chr16:g.88733987_88733988insCTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88734000_88734002dup , CM000678.2:g.88734000_88734002dup GRCh38
NC_000016.9:g.88800408_88800410dup , CM000678.1:g.88800408_88800410dup GRCh37
NC_000016.8:g.87327909_87327911dup NCBI36
NG_042229.1:g.56231_56233dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2245_2247dup (PIEZO1) MANE Select ENSP00000301015.9:p.Gln749_Glu750insGln
ENST00000301015.13:c.2245_2247dup (PIEZO1) ENSP00000301015.9:p.Gln749_Glu750insGln
NM_001142864.2:c.2245_2247dup (PIEZO1) NP_001136336.2:p.Gln749_Glu750insGln
NM_001142864.3:c.2245_2247dup (PIEZO1) NP_001136336.2:p.Gln749_Glu750insGln
NR_103774.1:n.269+2552_269+2554dup (HSALR1)
NM_001142864.4:c.2245_2247dup (PIEZO1) MANE Select NP_001136336.2:p.Gln749_Glu750insGln
Search 100 bp 5'
Search 100 bp 3'