Canonical Allele Identifier: CA8232831
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 618782
ClinVar RCV Id: RCV001692283
dbSNP Id: rs144777557
ExAC: 16:88800395 CCTG / C
gnomAD v2: 16-88800395-CCTG-C
gnomAD v3: 16-88733987-CCTG-C
gnomAD v4: 16-88733987-CCTG-C
COSMIC: COSM435924
MyVariant Identifiers: chr16:g.88800396_88800398del (hg19) chr16:g.88733989_88733991del (hg38) chr16:g.88733988_88733990del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88734000_88734002del , CM000678.2:g.88734000_88734002del GRCh38
NC_000016.9:g.88800408_88800410del , CM000678.1:g.88800408_88800410del GRCh37
NC_000016.8:g.87327909_87327911del NCBI36
NG_042229.1:g.56231_56233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2245_2247del (PIEZO1) MANE Select ENSP00000301015.9:p.Gln749del
ENST00000301015.13:c.2245_2247del (PIEZO1) ENSP00000301015.9:p.Gln749del
NM_001142864.2:c.2245_2247del (PIEZO1) NP_001136336.2:p.Gln749del
NM_001142864.3:c.2245_2247del (PIEZO1) NP_001136336.2:p.Gln749del
NR_103774.1:n.269+2552_269+2554del (HSALR1)
NM_001142864.4:c.2245_2247del (PIEZO1) MANE Select NP_001136336.2:p.Gln749del
Search 100 bp 5'
Search 100 bp 3'