Canonical Allele Identifier: CA2634881242

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88733990-G-GCTGCTGCTGCTGATGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733999_88734016dup , CM000678.2:g.88733999_88734016dup	GRCh38
NC_000016.9:g.88800407_88800424dup , CM000678.1:g.88800407_88800424dup	GRCh37
NC_000016.8:g.87327908_87327925dup	NCBI36
NG_042229.1:g.56213_56230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2227_2244dup (PIEZO1) MANE Select	ENSP00000301015.9:p.Gln748_Gln749insGluHisGlnGlnGlnGln
ENST00000301015.13:c.2227_2244dup (PIEZO1)	ENSP00000301015.9:p.Gln748_Gln749insGluHisGlnGlnGlnGln
NM_001142864.2:c.2227_2244dup (PIEZO1)	NP_001136336.2:p.Gln748_Gln749insGluHisGlnGlnGlnGln
NM_001142864.3:c.2227_2244dup (PIEZO1)	NP_001136336.2:p.Gln748_Gln749insGluHisGlnGlnGlnGln
NR_103774.1:n.269+2551_269+2568dup (HSALR1)
NM_001142864.4:c.2227_2244dup (PIEZO1) MANE Select	NP_001136336.2:p.Gln748_Gln749insGluHisGlnGlnGlnGln