Canonical Allele Identifier: CA2241262278

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs1905046832

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733987_88733988insTTC , CM000678.2:g.88733987_88733988insTTC	GRCh38
NC_000016.9:g.88800395_88800396insTTC , CM000678.1:g.88800395_88800396insTTC	GRCh37
NC_000016.8:g.87327896_87327897insTTC	NCBI36
NG_042229.1:g.56235_56236insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2249_2250insAGA (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu750_Glu751insGlu
ENST00000301015.13:c.2249_2250insAGA (PIEZO1)	ENSP00000301015.9:p.Glu750_Glu751insGlu
NM_001142864.2:c.2249_2250insAGA (PIEZO1)	NP_001136336.2:p.Glu750_Glu751insGlu
NM_001142864.3:c.2249_2250insAGA (PIEZO1)	NP_001136336.2:p.Glu750_Glu751insGlu
NR_103774.1:n.269+2539_269+2540insTTC (HSALR1)
NM_001142864.4:c.2249_2250insAGA (PIEZO1) MANE Select	NP_001136336.2:p.Glu750_Glu751insGlu