Canonical Allele Identifier: CA624449494
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1340427142
gnomAD v2: 16-88800284-TG-T
gnomAD v3: 16-88733876-TG-T
gnomAD v4: 16-88733876-TG-T
MyVariant Identifiers: chr16:g.88800285del (hg19) chr16:g.88733877del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733878del , CM000678.2:g.88733878del GRCh38
NC_000016.9:g.88800286del , CM000678.1:g.88800286del GRCh37
NC_000016.8:g.87327787del NCBI36
NG_042229.1:g.56344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2329+29del (PIEZO1) MANE Select ENSP00000301015.9:n.2329+29del
ENST00000301015.13:c.2329+29del (PIEZO1) ENSP00000301015.9:n.2329+29del
NM_001142864.2:c.2329+29del (PIEZO1) NP_001136336.2:n.2329+29del
NM_001142864.3:c.2329+29del (PIEZO1) NP_001136336.2:n.2329+29del
NR_103774.1:n.269+2430del (HSALR1)
NM_001142864.4:c.2329+29del (PIEZO1) MANE Select NP_001136336.2:n.2329+29del
Search 100 bp 5'
Search 100 bp 3'