Canonical Allele Identifier: CA2634878318

Gene: PIEZO1 HSALR1

Linked Data

• dbSNP Id: rs2142808570
• gnomAD v4: 16-88732324-C-CCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732325_88732326insGAC , CM000678.2:g.88732325_88732326insGAC	GRCh38
NC_000016.9:g.88798733_88798734insGAC , CM000678.1:g.88798733_88798734insGAC	GRCh37
NC_000016.8:g.87326234_87326235insGAC	NCBI36
NG_042229.1:g.57896_57897insTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2991+10_2991+11insTCG (PIEZO1) MANE Select	ENSP00000301015.9:n.2991+10_2991+11insTCG
ENST00000301015.13:c.2991+10_2991+11insTCG (PIEZO1)	ENSP00000301015.9:n.2991+10_2991+11insTCG
NM_001142864.2:c.2991+10_2991+11insTCG (PIEZO1)	NP_001136336.2:n.2991+10_2991+11insTCG
NM_001142864.3:c.2991+10_2991+11insTCG (PIEZO1)	NP_001136336.2:n.2991+10_2991+11insTCG
NR_103774.1:n.269+877_269+878insGAC (HSALR1)
NM_001142864.4:c.2991+10_2991+11insTCG (PIEZO1) MANE Select	NP_001136336.2:n.2991+10_2991+11insTCG