Canonical Allele Identifier: CA2634871011
Gene: PIEZO1 HGNC NCBI

Linked Data

gnomAD v4: 16-88720073-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720074dup , CM000678.2:g.88720074dup GRCh38
NC_000016.9:g.88786482dup , CM000678.1:g.88786482dup GRCh37
NC_000016.8:g.87313983dup NCBI36
NG_042229.1:g.70147dup

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6159dup MANE Select ENSP00000301015.9:p.Glu2054Ter
ENST00000466823.3:c.185dup
ENST00000301015.13:c.6159dup ENSP00000301015.9:p.Glu2054Ter
ENST00000466823.2:c.185dup
ENST00000495568.7:n.400dup
ENST00000497793.2:n.314dup
NM_001142864.2:c.6159dup NP_001136336.2:p.Glu2054Ter
NM_001142864.3:c.6159dup NP_001136336.2:p.Glu2054Ter
NM_001142864.4:c.6159dup MANE Select NP_001136336.2:p.Glu2054Ter
Search 100 bp 5'
Search 100 bp 3'