Linked Data
gnomAD v4:
16-88734025-AGCAGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88734027_88734032del , CM000678.2:g.88734027_88734032del | GRCh38 |
| NC_000016.9:g.88800435_88800440del , CM000678.1:g.88800435_88800440del | GRCh37 |
| NC_000016.8:g.87327936_87327941del | NCBI36 |
| NG_042229.1:g.56190_56195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2204_2209del (PIEZO1) MANE Select | ENSP00000301015.9:p.Pro735_Leu736del | |
| ENST00000301015.13:c.2204_2209del (PIEZO1) | ENSP00000301015.9:p.Pro735_Leu736del | |
| NM_001142864.2:c.2204_2209del (PIEZO1) | NP_001136336.2:p.Pro735_Leu736del | |
| NM_001142864.3:c.2204_2209del (PIEZO1) | NP_001136336.2:p.Pro735_Leu736del | |
| NR_103774.1:n.269+2579_269+2584del (HSALR1) | ||
| NM_001142864.4:c.2204_2209del (PIEZO1) MANE Select | NP_001136336.2:p.Pro735_Leu736del |