MyVariant.info:
GRCh38
chr9:g.2717747_2717750del
GRCh38
chr9:g.2717745_2717748del
GRCh37
chr9:g.2717747_2717750del
GRCh37
chr9:g.2717745_2717748del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006615 (AMR)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00007281 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717747_2717750del , CM000671.2:g.2717747_2717750del | GRCh38 |
| NC_000009.11:g.2717747_2717750del , CM000671.1:g.2717747_2717750del | GRCh37 |
| NC_000009.10:g.2707747_2707750del | NCBI36 |
| NG_012181.1:g.5222_5225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.8_11del MANE Select | ENSP00000371514.3:p.Lys3ArgfsTer? | |
| ENST00000382082.3:c.8_11del | ENSP00000371514.3:p.Lys3ArgfsTer? | |
| NM_133497.3:c.8_11del | NP_598004.1:p.Lys3ArgfsTer? | |
| XR_929202.1:n.509_512del | ||
| XR_929203.1:n.509_512del | ||
| NM_133497.4:c.8_11del MANE Select | NP_598004.1:p.Lys3ArgfsTer? |