Canonical Allele Identifier: CA725647421
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1373153546
gnomAD v3: 16-88734032-G-GGGTCCCACTCACTGC
gnomAD v4: 16-88734032-G-GGGTCCCACTCACTGC
MyVariant Identifiers: chr16:g.88800440_88800441insGGTCCCACTCACTGC (hg19) chr16:g.88734032_88734033insGGTCCCACTCACTGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88734033_88734047dup , CM000678.2:g.88734033_88734047dup GRCh38
NC_000016.9:g.88800441_88800455dup , CM000678.1:g.88800441_88800455dup GRCh37
NC_000016.8:g.87327942_87327956dup NCBI36
NG_042229.1:g.56174_56188dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2188_2202dup (PIEZO1) MANE Select ENSP00000301015.9:p.Thr734_Pro735insAlaValSerGlyThr
ENST00000301015.13:c.2188_2202dup (PIEZO1) ENSP00000301015.9:p.Thr734_Pro735insAlaValSerGlyThr
NM_001142864.2:c.2188_2202dup (PIEZO1) NP_001136336.2:p.Thr734_Pro735insAlaValSerGlyThr
NM_001142864.3:c.2188_2202dup (PIEZO1) NP_001136336.2:p.Thr734_Pro735insAlaValSerGlyThr
NR_103774.1:n.269+2585_269+2599dup (HSALR1)
NM_001142864.4:c.2188_2202dup (PIEZO1) MANE Select NP_001136336.2:p.Thr734_Pro735insAlaValSerGlyThr
Search 100 bp 5'
Search 100 bp 3'