Canonical Allele Identifier: CA2241261170
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732553_88732554delinsCA , CM000678.2:g.88732553_88732554delinsCA GRCh38
NC_000016.9:g.88798961_88798962delinsCA , CM000678.1:g.88798961_88798962delinsCA GRCh37
NC_000016.8:g.87326462_87326463delinsCA NCBI36
NG_042229.1:g.57667_57668delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2791-19_2791-18delinsTG (PIEZO1) MANE Select ENSP00000301015.9:n.2791-19_2791-18delinsTG
ENST00000301015.13:c.2791-19_2791-18delinsTG (PIEZO1) ENSP00000301015.9:n.2791-19_2791-18delinsTG
ENST00000490756.1:n.375-19_375-18delinsTG (PIEZO1)
NM_001142864.2:c.2791-19_2791-18delinsTG (PIEZO1) NP_001136336.2:n.2791-19_2791-18delinsTG
NM_001142864.3:c.2791-19_2791-18delinsTG (PIEZO1) NP_001136336.2:n.2791-19_2791-18delinsTG
NR_103774.1:n.269+1105_269+1106delinsCA (HSALR1)
NM_001142864.4:c.2791-19_2791-18delinsTG (PIEZO1) MANE Select NP_001136336.2:n.2791-19_2791-18delinsTG