Canonical Allele Identifier: CA2634881230
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

gnomAD v4: 16-88733923-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733923_88733924insA , CM000678.2:g.88733923_88733924insA GRCh38
NC_000016.9:g.88800331_88800332insA , CM000678.1:g.88800331_88800332insA GRCh37
NC_000016.8:g.87327832_87327833insA NCBI36
NG_042229.1:g.56297_56298insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2311_2312insT (PIEZO1) MANE Select ENSP00000301015.9:p.Ala771ValfsTer6
ENST00000301015.13:c.2311_2312insT (PIEZO1) ENSP00000301015.9:p.Ala771ValfsTer6
NM_001142864.2:c.2311_2312insT (PIEZO1) NP_001136336.2:p.Ala771ValfsTer6
NM_001142864.3:c.2311_2312insT (PIEZO1) NP_001136336.2:p.Ala771ValfsTer6
NR_103774.1:n.269+2475_269+2476insA (HSALR1)
NM_001142864.4:c.2311_2312insT (PIEZO1) MANE Select NP_001136336.2:p.Ala771ValfsTer6
Search 100 bp 5'
Search 100 bp 3'