Canonical Allele Identifier: CA624449498

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs763492110
• gnomAD v2: 16-88800392-C-CCTCCTGCTGCTGCTGCTGATG
• gnomAD v3: 16-88733984-C-CCTCCTGCTGCTGCTGCTGATG
• gnomAD v4: 16-88733984-C-CCTCCTGCTGCTGCTGCTGATG
• MyVariant Identifiers: chr16:g.88800413_88800414insCTCCTGCTGCTGCTGCTGATG (hg19) ; chr16:g.88800398_88800399insCTGCTGCTGCTGATGCTCCTG (hg19) ; chr16:g.88733990_88733991insCTGCTGCTGCTGATGCTCCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733996_88734016dup , CM000678.2:g.88733996_88734016dup	GRCh38
NC_000016.9:g.88800404_88800424dup , CM000678.1:g.88800404_88800424dup	GRCh37
NC_000016.8:g.87327905_87327925dup	NCBI36
NG_042229.1:g.56216_56236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2230_2250dup (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu750_Glu751insHisGlnGlnGlnGlnGlnGlu
ENST00000301015.13:c.2230_2250dup (PIEZO1)	ENSP00000301015.9:p.Glu750_Glu751insHisGlnGlnGlnGlnGlnGlu
NM_001142864.2:c.2230_2250dup (PIEZO1)	NP_001136336.2:p.Glu750_Glu751insHisGlnGlnGlnGlnGlnGlu
NM_001142864.3:c.2230_2250dup (PIEZO1)	NP_001136336.2:p.Glu750_Glu751insHisGlnGlnGlnGlnGlnGlu
NR_103774.1:n.269+2548_269+2568dup (HSALR1)
NM_001142864.4:c.2230_2250dup (PIEZO1) MANE Select	NP_001136336.2:p.Glu750_Glu751insHisGlnGlnGlnGlnGlnGlu