Canonical Allele Identifier: CA2241261181
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732565_88732569delinsGGGTA , CM000678.2:g.88732565_88732569delinsGGGTA GRCh38
NC_000016.9:g.88798973_88798977delinsGGGTA , CM000678.1:g.88798973_88798977delinsGGGTA GRCh37
NC_000016.8:g.87326474_87326478delinsGGGTA NCBI36
NG_042229.1:g.57652_57656delinsTACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2791-34_2791-30delinsTACCC (PIEZO1) MANE Select ENSP00000301015.9:n.2791-34_2791-30delinsTACCC
ENST00000301015.13:c.2791-34_2791-30delinsTACCC (PIEZO1) ENSP00000301015.9:n.2791-34_2791-30delinsTACCC
ENST00000490756.1:n.375-34_375-30delinsTACCC (PIEZO1)
NM_001142864.2:c.2791-34_2791-30delinsTACCC (PIEZO1) NP_001136336.2:n.2791-34_2791-30delinsTACCC
NM_001142864.3:c.2791-34_2791-30delinsTACCC (PIEZO1) NP_001136336.2:n.2791-34_2791-30delinsTACCC
NR_103774.1:n.269+1117_269+1121delinsGGGTA (HSALR1)
NM_001142864.4:c.2791-34_2791-30delinsTACCC (PIEZO1) MANE Select NP_001136336.2:n.2791-34_2791-30delinsTACCC