Canonical Allele Identifier: CA2241262255

Gene: PIEZO1 HSALR1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733964_88733976delinsGTCCTCCTCCTCC , CM000678.2:g.88733964_88733976delinsGTCCTCCTCCTCC	GRCh38
NC_000016.9:g.88800372_88800384delinsGTCCTCCTCCTCC , CM000678.1:g.88800372_88800384delinsGTCCTCCTCCTCC	GRCh37
NC_000016.8:g.87327873_87327885delinsGTCCTCCTCCTCC	NCBI36
NG_042229.1:g.56245_56257delinsGGAGGAGGAGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2259_2271delinsGGAGGAGGAGGAC (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu753=
ENST00000301015.13:c.2259_2271delinsGGAGGAGGAGGAC (PIEZO1)	ENSP00000301015.9:p.Glu753=
NM_001142864.2:c.2259_2271delinsGGAGGAGGAGGAC (PIEZO1)	NP_001136336.2:p.Glu753=
NM_001142864.3:c.2259_2271delinsGGAGGAGGAGGAC (PIEZO1)	NP_001136336.2:p.Glu753=
NR_103774.1:n.269+2516_269+2528delinsGTCCTCCTCCTCC (HSALR1)
NM_001142864.4:c.2259_2271delinsGGAGGAGGAGGAC (PIEZO1) MANE Select	NP_001136336.2:p.Glu753=