Canonical Allele Identifier: CA2241262273

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733984_88733986delinsCCT , CM000678.2:g.88733984_88733986delinsCCT	GRCh38
NC_000016.9:g.88800392_88800394delinsCCT , CM000678.1:g.88800392_88800394delinsCCT	GRCh37
NC_000016.8:g.87327893_87327895delinsCCT	NCBI36
NG_042229.1:g.56235_56237delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2249_2251delinsAGG (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu750=
ENST00000301015.13:c.2249_2251delinsAGG (PIEZO1)	ENSP00000301015.9:p.Glu750=
NM_001142864.2:c.2249_2251delinsAGG (PIEZO1)	NP_001136336.2:p.Glu750=
NM_001142864.3:c.2249_2251delinsAGG (PIEZO1)	NP_001136336.2:p.Glu750=
NR_103774.1:n.269+2536_269+2538delinsCCT (HSALR1)
NM_001142864.4:c.2249_2251delinsAGG (PIEZO1) MANE Select	NP_001136336.2:p.Glu750=