Canonical Allele Identifier: CA2634881244
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88734003_88734014dup , CM000678.2:g.88734003_88734014dup GRCh38
NC_000016.9:g.88800411_88800422dup , CM000678.1:g.88800411_88800422dup GRCh37
NC_000016.8:g.87327912_87327923dup NCBI36
NG_042229.1:g.56213_56224dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2227_2238dup (PIEZO1) MANE Select ENSP00000301015.9:p.Gln746_Gln747insGluHisGlnGln
ENST00000301015.13:c.2227_2238dup (PIEZO1) ENSP00000301015.9:p.Gln746_Gln747insGluHisGlnGln
NM_001142864.2:c.2227_2238dup (PIEZO1) NP_001136336.2:p.Gln746_Gln747insGluHisGlnGln
NM_001142864.3:c.2227_2238dup (PIEZO1) NP_001136336.2:p.Gln746_Gln747insGluHisGlnGln
NR_103774.1:n.269+2555_269+2566dup (HSALR1)
NM_001142864.4:c.2227_2238dup (PIEZO1) MANE Select NP_001136336.2:p.Gln746_Gln747insGluHisGlnGln