Canonical Allele Identifier: CA2531214128

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719799_88719800insGT , CM000678.2:g.88719799_88719800insGT	GRCh38
NC_000016.9:g.88786207_88786208insGT , CM000678.1:g.88786207_88786208insGT	GRCh37
NC_000016.8:g.87313708_87313709insGT	NCBI36
NG_042229.1:g.70421_70422insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6323+2_6323+3insAC MANE Select	ENSP00000301015.9:n.6323+2_6323+3insAC
ENST00000466823.3:c.349+2_349+3insAC
ENST00000301015.13:c.6323+2_6323+3insAC	ENSP00000301015.9:n.6323+2_6323+3insAC
ENST00000419505.5:c.89+2_89+3insAC	ENSP00000406358.1:n.89+2_89+3insAC
ENST00000466823.2:c.349+2_349+3insAC
ENST00000495568.7:n.564+2_564+3insAC
ENST00000497793.2:n.478+2_478+3insAC
NM_001142864.2:c.6323+2_6323+3insAC	NP_001136336.2:n.6323+2_6323+3insAC
NM_001142864.3:c.6323+2_6323+3insAC	NP_001136336.2:n.6323+2_6323+3insAC
NM_001142864.4:c.6323+2_6323+3insAC MANE Select	NP_001136336.2:n.6323+2_6323+3insAC