MyVariant.info:
GRCh38
chr19:g.7529187_7529189del
GRCh37
chr19:g.7594073_7594075del
GRCh37
chr19:g.7594070_7594072del
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529188_7529190del , CM000681.2:g.7529188_7529190del | GRCh38 |
| NC_000019.9:g.7594074_7594076del , CM000681.1:g.7594074_7594076del | GRCh37 |
| NC_000019.8:g.7500074_7500076del | NCBI36 |
| NG_013374.1:g.37_39del | |
| NG_015806.1:g.11579_11581del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1222_1224del MANE Select | ENSP00000264079.5:p.Phe408del | |
| ENST00000264079.10:c.1222_1224del | ENSP00000264079.5:p.Phe408del | |
| ENST00000394321.9:n.1537_1539del | ||
| ENST00000594692.1:n.218_220del | ||
| ENST00000595860.5:n.405_407del | ||
| ENST00000599334.1:c.99_101del | ||
| NM_020533.2:c.1222_1224del | NP_065394.1:p.Phe408del | |
| NM_020533.3:c.1222_1224del MANE Select | NP_065394.1:p.Phe408del |