Canonical Allele Identifier: CA8232822
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2711803
ClinVar RCV Id: RCV003545497 RCV003946650
dbSNP Id: rs59446030
ExAC: 16:88800372 G / GTCCTCC
gnomAD v2: 16-88800372-G-GTCCTCC
gnomAD v3: 16-88733964-G-GTCCTCC
gnomAD v4: 16-88733964-G-GTCCTCC
MyVariant Identifiers: chr16:g.88800381_88800382insTCCTCC (hg19) chr16:g.88800378_88800379insTCCTCC (hg19) chr16:g.88800375_88800376insTCCTCC (hg19) chr16:g.88800372_88800373insTCCTCC (hg19) chr16:g.88733973_88733974insTCCTCC (hg38) chr16:g.88733964_88733965insTCCTCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733984_88733989dup , CM000678.2:g.88733984_88733989dup GRCh38
NC_000016.9:g.88800392_88800397dup , CM000678.1:g.88800392_88800397dup GRCh37
NC_000016.8:g.87327893_87327898dup NCBI36
NG_042229.1:g.56251_56256dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2265_2270dup (PIEZO1) MANE Select ENSP00000301015.9:p.Glu756_Asp757insGluGlu
ENST00000301015.13:c.2265_2270dup (PIEZO1) ENSP00000301015.9:p.Glu756_Asp757insGluGlu
NM_001142864.2:c.2265_2270dup (PIEZO1) NP_001136336.2:p.Glu756_Asp757insGluGlu
NM_001142864.3:c.2265_2270dup (PIEZO1) NP_001136336.2:p.Glu756_Asp757insGluGlu
NR_103774.1:n.269+2536_269+2541dup (HSALR1)
NM_001142864.4:c.2265_2270dup (PIEZO1) MANE Select NP_001136336.2:p.Glu756_Asp757insGluGlu
Search 100 bp 5'
Search 100 bp 3'