Canonical Allele Identifier: CA2634871004
Gene: PIEZO1 HGNC NCBI

Linked Data

gnomAD v4: 16-88720072-TCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720073_88720074del , CM000678.2:g.88720073_88720074del GRCh38
NC_000016.9:g.88786481_88786482del , CM000678.1:g.88786481_88786482del GRCh37
NC_000016.8:g.87313982_87313983del NCBI36
NG_042229.1:g.70147_70148del

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6159_6160del MANE Select ENSP00000301015.9:p.Arg2055AspfsTer?
ENST00000466823.3:c.185_186del
ENST00000301015.13:c.6159_6160del ENSP00000301015.9:p.Arg2055AspfsTer?
ENST00000466823.2:c.185_186del
ENST00000495568.7:n.400_401del
ENST00000497793.2:n.314_315del
NM_001142864.2:c.6159_6160del NP_001136336.2:p.Arg2055AspfsTer?
NM_001142864.3:c.6159_6160del NP_001136336.2:p.Arg2055AspfsTer?
NM_001142864.4:c.6159_6160del MANE Select NP_001136336.2:p.Arg2055AspfsTer?
Search 100 bp 5'
Search 100 bp 3'