Canonical Allele Identifier: CA2634878355
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732571_88732574dup , CM000678.2:g.88732571_88732574dup GRCh38
NC_000016.9:g.88798979_88798982dup , CM000678.1:g.88798979_88798982dup GRCh37
NC_000016.8:g.87326480_87326483dup NCBI36
NG_042229.1:g.57648_57651dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2790+34_2791-35dup (PIEZO1) MANE Select ENSP00000301015.9:n.2790+34_2791-35dup
ENST00000301015.13:c.2790+34_2791-35dup (PIEZO1) ENSP00000301015.9:n.2790+34_2791-35dup
ENST00000490756.1:n.374+34_375-35dup (PIEZO1)
NM_001142864.2:c.2790+34_2791-35dup (PIEZO1) NP_001136336.2:n.2790+34_2791-35dup
NM_001142864.3:c.2790+34_2791-35dup (PIEZO1) NP_001136336.2:n.2790+34_2791-35dup
NR_103774.1:n.269+1123_269+1126dup (HSALR1)
NM_001142864.4:c.2790+34_2791-35dup (PIEZO1) MANE Select NP_001136336.2:n.2790+34_2791-35dup