Canonical Allele Identifier: CA2497029918

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733987_88733990delinsCCTG , CM000678.2:g.88733987_88733990delinsCCTG	GRCh38
NC_000016.9:g.88800395_88800398delinsCCTG , CM000678.1:g.88800395_88800398delinsCCTG	GRCh37
NC_000016.8:g.87327896_87327899delinsCCTG	NCBI36
NG_042229.1:g.56231_56234delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2245_2248delinsCAGG (PIEZO1) MANE Select	ENSP00000301015.9:p.Gln749=
ENST00000301015.13:c.2245_2248delinsCAGG (PIEZO1)	ENSP00000301015.9:p.Gln749=
NM_001142864.2:c.2245_2248delinsCAGG (PIEZO1)	NP_001136336.2:p.Gln749=
NM_001142864.3:c.2245_2248delinsCAGG (PIEZO1)	NP_001136336.2:p.Gln749=
NR_103774.1:n.269+2539_269+2542delinsCCTG (HSALR1)
NM_001142864.4:c.2245_2248delinsCAGG (PIEZO1) MANE Select	NP_001136336.2:p.Gln749=