Canonical Allele Identifier: CA8232829

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs763492110
• ExAC: 16:88800392 CCTCCTGCTGCTGCTGCTGATG / C
• gnomAD v2: 16-88800392-CCTCCTGCTGCTGCTGCTGATG-C
• gnomAD v4: 16-88733984-CCTCCTGCTGCTGCTGCTGATG-C
• MyVariant Identifiers: chr16:g.88800393_88800413del (hg19) ; chr16:g.88733985_88734005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733996_88734016del , CM000678.2:g.88733996_88734016del	GRCh38
NC_000016.9:g.88800404_88800424del , CM000678.1:g.88800404_88800424del	GRCh37
NC_000016.8:g.87327905_87327925del	NCBI36
NG_042229.1:g.56216_56236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2230_2250del (PIEZO1) MANE Select	ENSP00000301015.9:p.His744_Glu750del
ENST00000301015.13:c.2230_2250del (PIEZO1)	ENSP00000301015.9:p.His744_Glu750del
NM_001142864.2:c.2230_2250del (PIEZO1)	NP_001136336.2:p.His744_Glu750del
NM_001142864.3:c.2230_2250del (PIEZO1)	NP_001136336.2:p.His744_Glu750del
NR_103774.1:n.269+2548_269+2568del (HSALR1)
NM_001142864.4:c.2230_2250del (PIEZO1) MANE Select	NP_001136336.2:p.His744_Glu750del