Linked Data
gnomAD v4:
1-204190579-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190582_204190584del , CM000663.2:g.204190582_204190584del | GRCh38 |
| NC_000001.10:g.204159710_204159712del , CM000663.1:g.204159710_204159712del | GRCh37 |
| NC_000001.9:g.202426333_202426335del | NCBI36 |
| NG_032151.1:g.10910_10912del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.319_321del MANE Select | ENSP00000356162.4:p.Lys107del | |
| ENST00000367194.4:c.319_321del | ENSP00000356162.4:p.Lys107del | |
| ENST00000625357.1:c.319_321del | ENSP00000485957.1:p.Lys107del | |
| NM_002256.3:c.319_321del | NP_002247.3:p.Lys107del | |
| XM_011509525.1:c.319_321del | XP_011507827.1:p.Lys107del | |
| NM_002256.4:c.319_321del MANE Select | NP_002247.3:p.Lys107del |