Linked Data
dbSNP Id:
rs63751216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177402del , CM000678.2:g.177402del | GRCh38 |
| NC_000016.9:g.227401del , CM000678.1:g.227401del | GRCh37 |
| NC_000016.8:g.167401del | NCBI36 |
| NG_000006.1:g.38265del | |
| NG_059186.1:g.5752del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.420del MANE Select | ENSP00000322421.5:p.Lys140AsnfsTer? | |
| ENST00000397797.1:c.324del | ENSP00000380899.1:p.Lys108AsnfsTer? | |
| ENST00000472694.1:n.556del | ||
| NM_000558.4:c.420del | NP_000549.1:p.Lys140AsnfsTer? | |
| NM_000558.5:c.420del MANE Select | NP_000549.1:p.Lys140AsnfsTer? |