Canonical Allele Identifier: CA8232820

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 1206134
• ClinVar RCV Id: RCV001573362 ; RCV001700786
• dbSNP Id: rs59446030
• ExAC: 16:88800372 G / GTCC
• gnomAD v2: 16-88800372-G-GTCC
• gnomAD v3: 16-88733964-G-GTCC
• gnomAD v4: 16-88733964-G-GTCC
• COSMIC: COSM239793
• MyVariant Identifiers: chr16:g.88800381_88800382insTCC (hg19) ; chr16:g.88800378_88800379insTCC (hg19) ; chr16:g.88800375_88800376insTCC (hg19) ; chr16:g.88800372_88800373insTCC (hg19) ; chr16:g.88733973_88733974insTCC (hg38) ; chr16:g.88733964_88733965insTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733987_88733989dup , CM000678.2:g.88733987_88733989dup	GRCh38
NC_000016.9:g.88800395_88800397dup , CM000678.1:g.88800395_88800397dup	GRCh37
NC_000016.8:g.87327896_87327898dup	NCBI36
NG_042229.1:g.56254_56256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2268_2270dup (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu756_Asp757insGlu
ENST00000301015.13:c.2268_2270dup (PIEZO1)	ENSP00000301015.9:p.Glu756_Asp757insGlu
NM_001142864.2:c.2268_2270dup (PIEZO1)	NP_001136336.2:p.Glu756_Asp757insGlu
NM_001142864.3:c.2268_2270dup (PIEZO1)	NP_001136336.2:p.Glu756_Asp757insGlu
NR_103774.1:n.269+2539_269+2541dup (HSALR1)
NM_001142864.4:c.2268_2270dup (PIEZO1) MANE Select	NP_001136336.2:p.Glu756_Asp757insGlu