Linked Data
dbSNP Id:
rs1848187244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762717_94762726del , CM000672.2:g.94762717_94762726del | GRCh38 |
| NC_000010.10:g.96522474_96522483del , CM000672.1:g.96522474_96522483del | GRCh37 |
| NC_000010.9:g.96512464_96512473del | NCBI36 |
| NG_008384.2:g.5012_5021del | |
| NG_008384.3:g.5037_5046del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.12_21del MANE Select | ENSP00000360372.3:p.Phe4LeufsTer? | |
| ENST00000371321.7:c.12_21del | ENSP00000360372.3:p.Phe4LeufsTer? | |
| ENST00000464755.1:c.932-12341_932-12332del | ENSP00000483243.1:n.932-12341_932-12332de... | |
| ENST00000480405.2:c.12_21del | ENSP00000483847.1:p.Phe4LeufsTer? | |
| NM_000769.2:c.12_21del | NP_000760.1:p.Phe4LeufsTer? | |
| NM_000769.4:c.12_21del MANE Select | NP_000760.1:p.Phe4LeufsTer? |