Canonical Allele Identifier: CA8232828

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 1195492
• ClinVar RCV Id: RCV001558588
• dbSNP Id: rs144269709
• ExAC: 16:88800392 CCTCCTG / C
• gnomAD v2: 16-88800392-CCTCCTG-C
• gnomAD v3: 16-88733984-CCTCCTG-C
• gnomAD v4: 16-88733984-CCTCCTG-C
• COSMIC: COSM405096
• MyVariant Identifiers: chr16:g.88800393_88800398del (hg19) ; chr16:g.88800395_88800413delinsGCTGCTGCTGATG (hg19) ; chr16:g.88733986_88733991del (hg38) ; chr16:g.88733985_88733990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733987_88733992del , CM000678.2:g.88733987_88733992del	GRCh38
NC_000016.9:g.88800395_88800400del , CM000678.1:g.88800395_88800400del	GRCh37
NC_000016.8:g.87327896_87327901del	NCBI36
NG_042229.1:g.56231_56236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2245_2250del (PIEZO1) MANE Select	ENSP00000301015.9:p.Gln749_Glu750del
ENST00000301015.13:c.2245_2250del (PIEZO1)	ENSP00000301015.9:p.Gln749_Glu750del
NM_001142864.2:c.2245_2250del (PIEZO1)	NP_001136336.2:p.Gln749_Glu750del
NM_001142864.3:c.2245_2250del (PIEZO1)	NP_001136336.2:p.Gln749_Glu750del
NR_103774.1:n.269+2539_269+2544del (HSALR1)
NM_001142864.4:c.2245_2250del (PIEZO1) MANE Select	NP_001136336.2:p.Gln749_Glu750del