Canonical Allele Identifier: CA8231306

Gene: PIEZO1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88715693_88715698del , CM000678.2:g.88715693_88715698del	GRCh38
NC_000016.9:g.88782101_88782106del , CM000678.1:g.88782101_88782106del	GRCh37
NC_000016.8:g.87309602_87309607del	NCBI36
NG_042229.1:g.74533_74538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.7483_7488del MANE Select	ENSP00000301015.9:p.Leu2495_Glu2496del
ENST00000484567.6:n.2542_2547del
ENST00000518793.6:c.315_320del
ENST00000301015.13:c.7483_7488del	ENSP00000301015.9:p.Leu2495_Glu2496del
ENST00000327397.8:c.1049_1054del	ENSP00000333704.7:p.Ala350_Gly351del
ENST00000419505.5:c.1290_1295del	ENSP00000406358.1:n.1290_1295del
ENST00000484567.5:n.2119_2124del
ENST00000518793.5:c.315_320del
ENST00000521877.1:n.447_452del
NM_001142864.2:c.7483_7488del	NP_001136336.2:p.Leu2495_Glu2496del
NM_001142864.3:c.7483_7488del	NP_001136336.2:p.Leu2495_Glu2496del
NM_001142864.4:c.7483_7488del MANE Select	NP_001136336.2:p.Leu2495_Glu2496del