Canonical Allele Identifier: CA2241262288

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733993_88734008delinsGCTGCTGCTGATGCTC , CM000678.2:g.88733993_88734008delinsGCTGCTGCTGATGCTC	GRCh38
NC_000016.9:g.88800401_88800416delinsGCTGCTGCTGATGCTC , CM000678.1:g.88800401_88800416delinsGCTGCTGCTGATGCTC	GRCh37
NC_000016.8:g.87327902_87327917delinsGCTGCTGCTGATGCTC	NCBI36
NG_042229.1:g.56213_56228delinsGAGCATCAGCAGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2227_2242delinsGAGCATCAGCAGCAGC (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu743=
ENST00000301015.13:c.2227_2242delinsGAGCATCAGCAGCAGC (PIEZO1)	ENSP00000301015.9:p.Glu743=
NM_001142864.2:c.2227_2242delinsGAGCATCAGCAGCAGC (PIEZO1)	NP_001136336.2:p.Glu743=
NM_001142864.3:c.2227_2242delinsGAGCATCAGCAGCAGC (PIEZO1)	NP_001136336.2:p.Glu743=
NR_103774.1:n.269+2545_269+2560delinsGCTGCTGCTGATGCTC (HSALR1)
NM_001142864.4:c.2227_2242delinsGAGCATCAGCAGCAGC (PIEZO1) MANE Select	NP_001136336.2:p.Glu743=