Canonical Allele Identifier: CA2634878377

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88732671-C-CCCCGGTACA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732672_88732680dup , CM000678.2:g.88732672_88732680dup	GRCh38
NC_000016.9:g.88799080_88799088dup , CM000678.1:g.88799080_88799088dup	GRCh37
NC_000016.8:g.87326581_87326589dup	NCBI36
NG_042229.1:g.57541_57549dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2717_2725dup (PIEZO1) MANE Select	ENSP00000301015.9:p.Arg908_Gly909insValTyrArg
ENST00000301015.13:c.2717_2725dup (PIEZO1)	ENSP00000301015.9:p.Arg908_Gly909insValTyrArg
ENST00000490756.1:n.301_309dup (PIEZO1)
NM_001142864.2:c.2717_2725dup (PIEZO1)	NP_001136336.2:p.Arg908_Gly909insValTyrArg
NM_001142864.3:c.2717_2725dup (PIEZO1)	NP_001136336.2:p.Arg908_Gly909insValTyrArg
NR_103774.1:n.269+1224_269+1232dup (HSALR1)
NM_001142864.4:c.2717_2725dup (PIEZO1) MANE Select	NP_001136336.2:p.Arg908_Gly909insValTyrArg