Canonical Allele Identifier: CA2241244185
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1912282242
gnomAD v4: 16-88719596-TTGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719603_88719605del , CM000678.2:g.88719603_88719605del GRCh38
NC_000016.9:g.88786011_88786013del , CM000678.1:g.88786011_88786013del GRCh37
NC_000016.8:g.87313512_87313514del NCBI36
NG_042229.1:g.70622_70624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6446_6448del MANE Select ENSP00000301015.9:p.Ile2149del
ENST00000466823.3:c.472_474del
ENST00000301015.13:c.6446_6448del ENSP00000301015.9:p.Ile2149del
ENST00000419505.5:c.212_214del ENSP00000406358.1:p.Ile71del
ENST00000466823.2:c.472_474del
ENST00000495568.7:n.687_689del
ENST00000497793.2:n.601_603del
NM_001142864.2:c.6446_6448del NP_001136336.2:p.Ile2149del
NM_001142864.3:c.6446_6448del NP_001136336.2:p.Ile2149del
NM_001142864.4:c.6446_6448del MANE Select NP_001136336.2:p.Ile2149del
Search 100 bp 5'
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