Linked Data
dbSNP Id:
rs1367545694
gnomAD v2:
2-25045948-T-TC
gnomAD v3:
2-24823079-T-TC
gnomAD v4:
2-24823079-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24823081dup , CM000664.2:g.24823081dup | GRCh38 |
| NC_000002.11:g.25045950dup , CM000664.1:g.25045950dup | GRCh37 |
| NC_000002.10:g.24899454dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.2886+129dup | ENSP00000384484.2:n.2886+129dup | |
| ENST00000679454.1:c.2883+129dup MANE Select | ENSP00000505261.1:n.2883+129dup | |
| ENST00000260600.9:c.2883+129dup | ENSP00000260600.5:n.2883+129dup | |
| ENST00000405392.5:c.2886+129dup | ENSP00000384484.2:n.2886+129dup | |
| ENST00000485887.1:n.155+129dup | ||
| ENST00000606682.5:c.1824+129dup | ENSP00000475652.1:n.1824+129dup | |
| NM_004036.3:c.2883+129dup | NP_004027.2:n.2883+129dup | |
| XM_005264104.1:c.2886+129dup | XP_005264161.1:n.2886+129dup | |
| XM_005264105.1:c.2883+129dup | XP_005264162.1:n.2883+129dup | |
| XM_006711925.1:c.2952+129dup | XP_006711988.1:n.2952+129dup | |
| XM_011532489.1:c.3009+129dup | XP_011530791.1:n.3009+129dup | |
| XM_011532490.1:c.3006+129dup | XP_011530792.1:n.3006+129dup | |
| XM_011532491.1:c.2943+129dup | XP_011530793.1:n.2943+129dup | |
| XM_011532492.1:c.3009+129dup | XP_011530794.1:n.3009+129dup | |
| XM_011532493.1:c.2871+129dup | XP_011530795.1:n.2871+129dup | |
| XM_011532494.1:c.2811+129dup | XP_011530796.1:n.2811+129dup | |
| XM_011532495.1:c.2343+129dup | XP_011530797.1:n.2343+129dup | |
| XM_011532496.1:c.2286+129dup | XP_011530798.1:n.2286+129dup | |
| NM_001320613.1:c.2886+129dup | NP_001307542.1:n.2886+129dup | |
| NM_004036.4:c.2883+129dup | NP_004027.2:n.2883+129dup | |
| XM_011532492.2:c.3009+129dup | XP_011530794.1:n.3009+129dup | |
| XM_017003186.1:c.2949+129dup | XP_016858675.1:n.2949+129dup | |
| XM_017003187.1:c.2940+129dup | XP_016858676.1:n.2940+129dup | |
| XM_017003188.1:c.3006+129dup | XP_016858677.1:n.3006+129dup | |
| XM_017003189.1:c.2868+129dup | XP_016858678.1:n.2868+129dup | |
| XM_017003190.1:c.2745+129dup | XP_016858679.1:n.2745+129dup | |
| XM_017003191.1:c.2373+129dup | XP_016858680.1:n.2373+129dup | |
| XM_017003192.1:c.2163+129dup | XP_016858681.1:n.2163+129dup | |
| XM_017003193.1:c.2160+129dup | XP_016858682.1:n.2160+129dup | |
| NM_001320613.2:c.2886+129dup | NP_001307542.1:n.2886+129dup | |
| NM_001377128.1:c.2949+129dup | NP_001364057.1:n.2949+129dup | |
| NM_001377129.1:c.2745+129dup | NP_001364058.1:n.2745+129dup | |
| NM_001377130.1:c.2332-450dup | NP_001364059.1:n.2332-450dup | |
| NM_001377131.1:c.2160+129dup | NP_001364060.1:n.2160+129dup | |
| NM_001377132.1:c.2883+129dup | NP_001364061.1:n.2883+129dup | |
| NM_004036.5:c.2883+129dup MANE Select | NP_004027.2:n.2883+129dup |