Canonical Allele Identifier: CA286423382
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683400
ClinVar RCV Id: RCV003480220
dbSNP Id: rs753432087
gnomAD v2: 16-88800401-GCTGCTGCTGATGCTC-G
gnomAD v3: 16-88733993-GCTGCTGCTGATGCTC-G
gnomAD v4: 16-88733993-GCTGCTGCTGATGCTC-G
MyVariant Identifiers: chr16:g.88800402_88800416del (hg19) chr16:g.88733994_88734008del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88734002_88734016del , CM000678.2:g.88734002_88734016del GRCh38
NC_000016.9:g.88800410_88800424del , CM000678.1:g.88800410_88800424del GRCh37
NC_000016.8:g.87327911_87327925del NCBI36
NG_042229.1:g.56213_56227del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2227_2241del (PIEZO1) MANE Select ENSP00000301015.9:p.Glu743_Gln747del
ENST00000301015.13:c.2227_2241del (PIEZO1) ENSP00000301015.9:p.Glu743_Gln747del
NM_001142864.2:c.2227_2241del (PIEZO1) NP_001136336.2:p.Glu743_Gln747del
NM_001142864.3:c.2227_2241del (PIEZO1) NP_001136336.2:p.Glu743_Gln747del
NR_103774.1:n.269+2554_269+2568del (HSALR1)
NM_001142864.4:c.2227_2241del (PIEZO1) MANE Select NP_001136336.2:p.Glu743_Gln747del
Search 100 bp 5'
Search 100 bp 3'