Canonical Allele Identifier: CA624449431
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1287162511
gnomAD v2: 16-88798829-TG-T
gnomAD v4: 16-88732421-TG-T
MyVariant Identifiers: chr16:g.88798830del (hg19) chr16:g.88732422del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732423del , CM000678.2:g.88732423del GRCh38
NC_000016.9:g.88798831del , CM000678.1:g.88798831del GRCh37
NC_000016.8:g.87326332del NCBI36
NG_042229.1:g.57799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2904del (PIEZO1) MANE Select ENSP00000301015.9:p.Ser969AlafsTer?
ENST00000301015.13:c.2904del (PIEZO1) ENSP00000301015.9:p.Ser969AlafsTer?
NM_001142864.2:c.2904del (PIEZO1) NP_001136336.2:p.Ser969AlafsTer?
NM_001142864.3:c.2904del (PIEZO1) NP_001136336.2:p.Ser969AlafsTer?
NR_103774.1:n.269+975del (HSALR1)
NM_001142864.4:c.2904del (PIEZO1) MANE Select NP_001136336.2:p.Ser969AlafsTer?
Search 100 bp 5'
Search 100 bp 3'