Canonical Allele Identifier: CA211291

Gene: PIEZO1

Linked Data

• ClinVar Variation Id: 418948
• ClinVar RCV Id: RCV000049237 ; RCV000485661 ; RCV003444239
• dbSNP Id: rs587776992
• MyVariant Identifiers: chr16:g.88782095_88782100dupAGCTCC (hg19) ; chr16:g.88782091_88782096dupCTCCAG (hg19) ; chr16:g.88782090_88782091insCTCCAG (hg19) ; chr16:g.88715687_88715692dupAGCTCC (hg38) ; chr16:g.88715683_88715688dupCTCCAG (hg38) ; chr16:g.88715682_88715683insCTCCAG (hg38)
• PubMed: PMID:9827909 ; PMID:18377960 ; PMID:23695678

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88715693_88715698dup , CM000678.2:g.88715693_88715698dup	GRCh38
NC_000016.9:g.88782101_88782106dup , CM000678.1:g.88782101_88782106dup	GRCh37
NC_000016.8:g.87309602_87309607dup	NCBI36
NG_042229.1:g.74533_74538dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.7483_7488dup MANE Select	ENSP00000301015.9:p.Glu2496_Glu2497insLeuGlu
ENST00000484567.6:n.2542_2547dup
ENST00000518793.6:c.315_320dup
ENST00000301015.13:c.7483_7488dup	ENSP00000301015.9:p.Glu2496_Glu2497insLeuGlu
ENST00000327397.8:c.1049_1054dup	ENSP00000333704.7:p.Gly351_Gly352insAlaGly
ENST00000419505.5:c.1290_1295dup	ENSP00000406358.1:n.1290_1295dup
ENST00000484567.5:n.2119_2124dup
ENST00000518793.5:c.315_320dup
ENST00000521877.1:n.447_452dup
NM_001142864.2:c.7483_7488dup	NP_001136336.2:p.Glu2496_Glu2497insLeuGlu
NM_001142864.3:c.7483_7488dup	NP_001136336.2:p.Glu2496_Glu2497insLeuGlu
NM_001142864.4:c.7483_7488dup MANE Select	NP_001136336.2:p.Glu2496_Glu2497insLeuGlu