Canonical Allele Identifier: CA8232827
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs765577709
ExAC: 16:88800389 CCTCCTCCTGCTGCTGCTGCTGATG / C
gnomAD v2: 16-88800389-CCTCCTCCTGCTGCTGCTGCTGATG-C
gnomAD v3: 16-88733981-CCTCCTCCTGCTGCTGCTGCTGATG-C
gnomAD v4: 16-88733981-CCTCCTCCTGCTGCTGCTGCTGATG-C
MyVariant Identifiers: chr16:g.88800390_88800413del (hg19) chr16:g.88733982_88734005del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733987_88734010del , CM000678.2:g.88733987_88734010del GRCh38
NC_000016.9:g.88800395_88800418del , CM000678.1:g.88800395_88800418del GRCh37
NC_000016.8:g.87327896_87327919del NCBI36
NG_042229.1:g.56216_56239del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2230_2253del (PIEZO1) MANE Select ENSP00000301015.9:p.His744_Glu751del
ENST00000301015.13:c.2230_2253del (PIEZO1) ENSP00000301015.9:p.His744_Glu751del
NM_001142864.2:c.2230_2253del (PIEZO1) NP_001136336.2:p.His744_Glu751del
NM_001142864.3:c.2230_2253del (PIEZO1) NP_001136336.2:p.His744_Glu751del
NR_103774.1:n.269+2539_269+2562del (HSALR1)
NM_001142864.4:c.2230_2253del (PIEZO1) MANE Select NP_001136336.2:p.His744_Glu751del
Search 100 bp 5'
Search 100 bp 3'