Canonical Allele Identifier: CA2634878342

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88732553-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732554_88732555del , CM000678.2:g.88732554_88732555del	GRCh38
NC_000016.9:g.88798962_88798963del , CM000678.1:g.88798962_88798963del	GRCh37
NC_000016.8:g.87326463_87326464del	NCBI36
NG_042229.1:g.57666_57667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2791-20_2791-19del (PIEZO1) MANE Select	ENSP00000301015.9:n.2791-20_2791-19del
ENST00000301015.13:c.2791-20_2791-19del (PIEZO1)	ENSP00000301015.9:n.2791-20_2791-19del
ENST00000490756.1:n.375-20_375-19del (PIEZO1)
NM_001142864.2:c.2791-20_2791-19del (PIEZO1)	NP_001136336.2:n.2791-20_2791-19del
NM_001142864.3:c.2791-20_2791-19del (PIEZO1)	NP_001136336.2:n.2791-20_2791-19del
NR_103774.1:n.269+1106_269+1107del (HSALR1)
NM_001142864.4:c.2791-20_2791-19del (PIEZO1) MANE Select	NP_001136336.2:n.2791-20_2791-19del