Canonical Allele Identifier: CA2634878331

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88732532-G-GGCTTCTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732533_88732534insCTTCTGTTG , CM000678.2:g.88732533_88732534insCTTCTGTTG	GRCh38
NC_000016.9:g.88798941_88798942insCTTCTGTTG , CM000678.1:g.88798941_88798942insCTTCTGTTG	GRCh37
NC_000016.8:g.87326442_87326443insCTTCTGTTG	NCBI36
NG_042229.1:g.57688_57689insAACAGAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2793_2794insAACAGAAGC (PIEZO1) MANE Select	ENSP00000301015.9:p.Asn931_His932insAsnArgSer
ENST00000301015.13:c.2793_2794insAACAGAAGC (PIEZO1)	ENSP00000301015.9:p.Asn931_His932insAsnArgSer
ENST00000490756.1:n.377_378insAACAGAAGC (PIEZO1)
NM_001142864.2:c.2793_2794insAACAGAAGC (PIEZO1)	NP_001136336.2:p.Asn931_His932insAsnArgSer
NM_001142864.3:c.2793_2794insAACAGAAGC (PIEZO1)	NP_001136336.2:p.Asn931_His932insAsnArgSer
NR_103774.1:n.269+1085_269+1086insCTTCTGTTG (HSALR1)
NM_001142864.4:c.2793_2794insAACAGAAGC (PIEZO1) MANE Select	NP_001136336.2:p.Asn931_His932insAsnArgSer