Linked Data
gnomAD v4:
2-208129482-C-CCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129484_208129486dup , CM000664.2:g.208129484_208129486dup | GRCh38 |
| NC_000002.11:g.208994208_208994210dup , CM000664.1:g.208994208_208994210dup | GRCh37 |
| NC_000002.10:g.208702453_208702455dup | NCBI36 |
| NG_008038.1:g.5346_5348dup | |
| NG_008039.1:g.105_107dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.208_210dup MANE Select | ENSP00000282141.3:p.Met70_Gly71insMet | |
| ENST00000282141.3:c.208_210dup | ENSP00000282141.3:p.Met70_Gly71insMet | |
| NM_020989.3:c.208_210dup | NP_066269.1:p.Met70_Gly71insMet | |
| NR_038437.1:n.98-7572_98-7570dup | ||
| XM_011510661.1:c.208_210dup | XP_011508963.1:p.Met70_Gly71insMet | |
| XM_011510662.1:c.208_210dup | XP_011508964.1:p.Met70_Gly71insMet | |
| XM_011510663.1:c.79_81dup | XP_011508965.1:p.Met27_Gly28insMet | |
| NM_020989.4:c.208_210dup MANE Select | NP_066269.1:p.Met70_Gly71insMet |