Canonical Allele Identifier: CA2241261080
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732421_88732422delinsTG , CM000678.2:g.88732421_88732422delinsTG GRCh38
NC_000016.9:g.88798829_88798830delinsTG , CM000678.1:g.88798829_88798830delinsTG GRCh37
NC_000016.8:g.87326330_87326331delinsTG NCBI36
NG_042229.1:g.57799_57800delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2904_2905delinsCA (PIEZO1) MANE Select ENSP00000301015.9:p.Ala968=
ENST00000301015.13:c.2904_2905delinsCA (PIEZO1) ENSP00000301015.9:p.Ala968=
NM_001142864.2:c.2904_2905delinsCA (PIEZO1) NP_001136336.2:p.Ala968=
NM_001142864.3:c.2904_2905delinsCA (PIEZO1) NP_001136336.2:p.Ala968=
NR_103774.1:n.269+973_269+974delinsTG (HSALR1)
NM_001142864.4:c.2904_2905delinsCA (PIEZO1) MANE Select NP_001136336.2:p.Ala968=