Linked Data
dbSNP Id:
rs1411742825
gnomAD v2:
2-47708085-TTTG-T
gnomAD v3:
2-47480946-TTTG-T
gnomAD v4:
2-47480946-TTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47480955_47480957del , CM000664.2:g.47480955_47480957del | GRCh38 |
| NC_000002.11:g.47708094_47708096del , CM000664.1:g.47708094_47708096del | GRCh37 |
| NC_000002.10:g.47561598_47561600del | NCBI36 |
| NG_007110.2:g.82832_82834del , LRG_218:g.82832_82834del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2634+84_2634+86del | ENSP00000495641.2:n.2634+84_2634+86del | |
| ENST00000233146.7:c.2634+84_2634+86del MANE Select | ENSP00000233146.2:n.2634+84_2634+86del | |
| ENST00000543555.6:c.2436+84_2436+86del | ENSP00000442697.1:n.2436+84_2436+86del | |
| ENST00000644092.1:c.*934+84_*934+86del | ENSP00000496351.1:n.*934+84_*934+86del | |
| ENST00000644900.1:c.487+84_487+86del | ||
| ENST00000645339.1:c.2634+84_2634+86del | ENSP00000496441.1:n.2634+84_2634+86del | |
| ENST00000645506.1:c.2634+84_2634+86del | ENSP00000495455.1:n.2634+84_2634+86del | |
| ENST00000646415.1:c.2634+84_2634+86del | ENSP00000495543.1:n.2634+84_2634+86del | |
| ENST00000233146.6:c.2634+84_2634+86del | ENSP00000233146.2:n.2634+84_2634+86del | |
| ENST00000406134.5:c.2634+84_2634+86del | ENSP00000384199.1:n.2634+84_2634+86del | |
| ENST00000461394.5:n.75+84_75+86del | ||
| ENST00000543555.5:c.2436+84_2436+86del | ENSP00000442697.1:n.2436+84_2436+86del | |
| ENST00000610696.4:c.*1030+84_*1030+86del | ENSP00000483159.1:n.*1030+84_*1030+86del | |
| ENST00000613514.4:c.*1174+84_*1174+86del | ENSP00000484137.1:n.*1174+84_*1174+86del | |
| ENST00000617333.3:c.*1400+84_*1400+86del | ENSP00000482468.1:n.*1400+84_*1400+86del | |
| ENST00000617938.4:c.*1606+84_*1606+86del | ENSP00000481158.1:n.*1606+84_*1606+86del | |
| ENST00000621359.2:c.*200+84_*200+86del | ENSP00000481416.1:n.*200+84_*200+86del | |
| NM_000251.2:c.2634+84_2634+86del , LRG_218t1:c.2634+84_2634+86del | NP_000242.1:n.2634+84_2634+86del | |
| NM_001258281.1:c.2436+84_2436+86del | NP_001245210.1:n.2436+84_2436+86del | |
| XM_005264332.2:c.2634+84_2634+86del | XP_005264389.2:n.2634+84_2634+86del | |
| XM_011532867.1:c.2634+84_2634+86del | XP_011531169.1:n.2634+84_2634+86del | |
| XR_939685.1:n.2706+84_2706+86del | ||
| XM_005264332.4:c.2634+84_2634+86del | XP_005264389.2:n.2634+84_2634+86del | |
| XM_011532867.2:c.2634+84_2634+86del | XP_011531169.1:n.2634+84_2634+86del | |
| XR_001738747.2:n.2696+84_2696+86del | ||
| XR_939685.2:n.2696+84_2696+86del | ||
| NM_000251.3:c.2634+84_2634+86del MANE Select | NP_000242.1:n.2634+84_2634+86del |