Canonical Allele Identifier: CA497366711
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

gnomAD v4: 16-88733997-CTG-C
MyVariant Identifiers: chr16:g.88800406_88800407del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733998_88733999del , CM000678.2:g.88733998_88733999del GRCh38
NC_000016.9:g.88800406_88800407del , CM000678.1:g.88800406_88800407del GRCh37
NC_000016.8:g.87327907_87327908del NCBI36
NG_042229.1:g.56222_56223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2236_2237del (PIEZO1) MANE Select ENSP00000301015.9:p.Gln746AlafsTer30
ENST00000301015.13:c.2236_2237del (PIEZO1) ENSP00000301015.9:p.Gln746AlafsTer30
NM_001142864.2:c.2236_2237del (PIEZO1) NP_001136336.2:p.Gln746AlafsTer30
NM_001142864.3:c.2236_2237del (PIEZO1) NP_001136336.2:p.Gln746AlafsTer30
NR_103774.1:n.269+2550_269+2551del (HSALR1)
NM_001142864.4:c.2236_2237del (PIEZO1) MANE Select NP_001136336.2:p.Gln746AlafsTer30
Search 100 bp 5'
Search 100 bp 3'