Canonical Allele Identifier: CA8232821

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 1330595
• ClinVar RCV Id: RCV001811746 ; RCV003948736
• dbSNP Id: rs59446030
• ExAC: 16:88800372 GTCCTCC / G
• gnomAD v2: 16-88800372-GTCCTCC-G
• gnomAD v3: 16-88733964-GTCCTCC-G
• gnomAD v4: 16-88733964-GTCCTCC-G
• MyVariant Identifiers: chr16:g.88800376_88800381del (hg19) ; chr16:g.88800373_88800378del (hg19) ; chr16:g.88733968_88733973del (hg38) ; chr16:g.88733965_88733970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733984_88733989del , CM000678.2:g.88733984_88733989del	GRCh38
NC_000016.9:g.88800392_88800397del , CM000678.1:g.88800392_88800397del	GRCh37
NC_000016.8:g.87327893_87327898del	NCBI36
NG_042229.1:g.56251_56256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2265_2270del (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu755_Glu756del
ENST00000301015.13:c.2265_2270del (PIEZO1)	ENSP00000301015.9:p.Glu755_Glu756del
NM_001142864.2:c.2265_2270del (PIEZO1)	NP_001136336.2:p.Glu755_Glu756del
NM_001142864.3:c.2265_2270del (PIEZO1)	NP_001136336.2:p.Glu755_Glu756del
NR_103774.1:n.269+2536_269+2541del (HSALR1)
NM_001142864.4:c.2265_2270del (PIEZO1) MANE Select	NP_001136336.2:p.Glu755_Glu756del