Canonical Allele Identifier: CA2241262200
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733876_88733877delinsTG , CM000678.2:g.88733876_88733877delinsTG GRCh38
NC_000016.9:g.88800284_88800285delinsTG , CM000678.1:g.88800284_88800285delinsTG GRCh37
NC_000016.8:g.87327785_87327786delinsTG NCBI36
NG_042229.1:g.56344_56345delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2329+29_2329+30delinsCA (PIEZO1) MANE Select ENSP00000301015.9:n.2329+29_2329+30delinsCA
ENST00000301015.13:c.2329+29_2329+30delinsCA (PIEZO1) ENSP00000301015.9:n.2329+29_2329+30delinsCA
NM_001142864.2:c.2329+29_2329+30delinsCA (PIEZO1) NP_001136336.2:n.2329+29_2329+30delinsCA
NM_001142864.3:c.2329+29_2329+30delinsCA (PIEZO1) NP_001136336.2:n.2329+29_2329+30delinsCA
NR_103774.1:n.269+2428_269+2429delinsTG (HSALR1)
NM_001142864.4:c.2329+29_2329+30delinsCA (PIEZO1) MANE Select NP_001136336.2:n.2329+29_2329+30delinsCA