Canonical Allele Identifier: CA2241261210

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732585_88732586delinsGC , CM000678.2:g.88732585_88732586delinsGC	GRCh38
NC_000016.9:g.88798993_88798994delinsGC , CM000678.1:g.88798993_88798994delinsGC	GRCh37
NC_000016.8:g.87326494_87326495delinsGC	NCBI36
NG_042229.1:g.57635_57636delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2790+21_2790+22delinsGC (PIEZO1) MANE Select	ENSP00000301015.9:n.2790+21_2790+22delinsGC
ENST00000301015.13:c.2790+21_2790+22delinsGC (PIEZO1)	ENSP00000301015.9:n.2790+21_2790+22delinsGC
ENST00000490756.1:n.374+21_374+22delinsGC (PIEZO1)
NM_001142864.2:c.2790+21_2790+22delinsGC (PIEZO1)	NP_001136336.2:n.2790+21_2790+22delinsGC
NM_001142864.3:c.2790+21_2790+22delinsGC (PIEZO1)	NP_001136336.2:n.2790+21_2790+22delinsGC
NR_103774.1:n.269+1137_269+1138delinsGC (HSALR1)
NM_001142864.4:c.2790+21_2790+22delinsGC (PIEZO1) MANE Select	NP_001136336.2:n.2790+21_2790+22delinsGC