Canonical Allele Identifier: CA2576093167
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733971_88733972insACTCCT , CM000678.2:g.88733971_88733972insACTCCT GRCh38
NC_000016.9:g.88800379_88800380insACTCCT , CM000678.1:g.88800379_88800380insACTCCT GRCh37
NC_000016.8:g.87327880_87327881insACTCCT NCBI36
NG_042229.1:g.56254_56255insTAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2268_2269insTAGGAG (PIEZO1)
ENST00000301015.13:c.2268_2269insTAGGAG (PIEZO1)
NM_001142864.2:c.2268_2269insTAGGAG (PIEZO1)
NM_001142864.3:c.2268_2269insTAGGAG (PIEZO1)
NR_103774.1:n.269+2523_269+2524insACTCCT (HSALR1)
NM_001142864.4:c.2268_2269insTAGGAG (PIEZO1)