Canonical Allele Identifier: CA2241261237

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732630_88732631delinsAC , CM000678.2:g.88732630_88732631delinsAC	GRCh38
NC_000016.9:g.88799038_88799039delinsAC , CM000678.1:g.88799038_88799039delinsAC	GRCh37
NC_000016.8:g.87326539_87326540delinsAC	NCBI36
NG_042229.1:g.57590_57591delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2766_2767delinsGT (PIEZO1) MANE Select	ENSP00000301015.9:p.Gly922=
ENST00000301015.13:c.2766_2767delinsGT (PIEZO1)	ENSP00000301015.9:p.Gly922=
ENST00000490756.1:n.350_351delinsGT (PIEZO1)
NM_001142864.2:c.2766_2767delinsGT (PIEZO1)	NP_001136336.2:p.Gly922=
NM_001142864.3:c.2766_2767delinsGT (PIEZO1)	NP_001136336.2:p.Gly922=
NR_103774.1:n.269+1182_269+1183delinsAC (HSALR1)
NM_001142864.4:c.2766_2767delinsGT (PIEZO1) MANE Select	NP_001136336.2:p.Gly922=