Canonical Allele Identifier: CA2634881229

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88733922-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733922_88733923insTA , CM000678.2:g.88733922_88733923insTA	GRCh38
NC_000016.9:g.88800330_88800331insTA , CM000678.1:g.88800330_88800331insTA	GRCh37
NC_000016.8:g.87327831_87327832insTA	NCBI36
NG_042229.1:g.56298_56299insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2312_2313insTA (PIEZO1) MANE Select	ENSP00000301015.9:p.Gln773ArgfsTer?
ENST00000301015.13:c.2312_2313insTA (PIEZO1)	ENSP00000301015.9:p.Gln773ArgfsTer?
NM_001142864.2:c.2312_2313insTA (PIEZO1)	NP_001136336.2:p.Gln773ArgfsTer?
NM_001142864.3:c.2312_2313insTA (PIEZO1)	NP_001136336.2:p.Gln773ArgfsTer?
NR_103774.1:n.269+2474_269+2475insTA (HSALR1)
NM_001142864.4:c.2312_2313insTA (PIEZO1) MANE Select	NP_001136336.2:p.Gln773ArgfsTer?