Canonical Allele Identifier: CA2634869239

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719574-C-CAGGGATA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719574_88719575insAGGGATA , CM000678.2:g.88719574_88719575insAGGGATA	GRCh38
NC_000016.9:g.88785982_88785983insAGGGATA , CM000678.1:g.88785982_88785983insAGGGATA	GRCh37
NC_000016.8:g.87313483_87313484insAGGGATA	NCBI36
NG_042229.1:g.70646_70647insTATCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6470_6471insTATCCCT MANE Select	ENSP00000301015.9:p.Lys2157AsnfsTer?
ENST00000466823.3:c.496_497insTATCCCT
ENST00000301015.13:c.6470_6471insTATCCCT	ENSP00000301015.9:p.Lys2157AsnfsTer?
ENST00000419505.5:c.236_237insTATCCCT	ENSP00000406358.1:p.Lys79AsnfsTer6
ENST00000466823.2:c.496_497insTATCCCT
ENST00000495568.7:n.711_712insTATCCCT
ENST00000497793.2:n.625_626insTATCCCT
NM_001142864.2:c.6470_6471insTATCCCT	NP_001136336.2:p.Lys2157AsnfsTer?
NM_001142864.3:c.6470_6471insTATCCCT	NP_001136336.2:p.Lys2157AsnfsTer?
NM_001142864.4:c.6470_6471insTATCCCT MANE Select	NP_001136336.2:p.Lys2157AsnfsTer?