Canonical Allele Identifier: CA2634878347

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88732559-GCAGCCGGGTACTCGCCCGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732566_88732585del , CM000678.2:g.88732566_88732585del	GRCh38
NC_000016.9:g.88798974_88798993del , CM000678.1:g.88798974_88798993del	GRCh37
NC_000016.8:g.87326475_87326494del	NCBI36
NG_042229.1:g.57642_57661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2790+28_2791-25del (PIEZO1) MANE Select	ENSP00000301015.9:n.2790+28_2791-25del
ENST00000301015.13:c.2790+28_2791-25del (PIEZO1)	ENSP00000301015.9:n.2790+28_2791-25del
ENST00000490756.1:n.374+28_375-25del (PIEZO1)
NM_001142864.2:c.2790+28_2791-25del (PIEZO1)	NP_001136336.2:n.2790+28_2791-25del
NM_001142864.3:c.2790+28_2791-25del (PIEZO1)	NP_001136336.2:n.2790+28_2791-25del
NR_103774.1:n.269+1118_269+1137del (HSALR1)
NM_001142864.4:c.2790+28_2791-25del (PIEZO1) MANE Select	NP_001136336.2:n.2790+28_2791-25del