Linked Data
dbSNP Id:
rs750754589
ExAC:
2:47702114 TTTATTA / T
gnomAD v2:
2-47702114-TTTATTA-T
gnomAD v4:
2-47474975-TTTATTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47474978_47474983del , CM000664.2:g.47474978_47474983del | GRCh38 |
| NC_000002.11:g.47702117_47702122del , CM000664.1:g.47702117_47702122del | GRCh37 |
| NC_000002.10:g.47555621_47555626del | NCBI36 |
| NG_007110.2:g.76855_76860del , LRG_218:g.76855_76860del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1760-47_1760-42del | ENSP00000495641.2:n.1760-47_1760-42del | |
| ENST00000233146.7:c.1760-47_1760-42del MANE Select | ENSP00000233146.2:n.1760-47_1760-42del | |
| ENST00000543555.6:c.1562-47_1562-42del | ENSP00000442697.1:n.1562-47_1562-42del | |
| ENST00000644092.1:c.*60-47_*60-42del | ENSP00000496351.1:n.*60-47_*60-42del | |
| ENST00000645339.1:c.1760-47_1760-42del | ENSP00000496441.1:n.1760-47_1760-42del | |
| ENST00000645506.1:c.1760-47_1760-42del | ENSP00000495455.1:n.1760-47_1760-42del | |
| ENST00000646415.1:c.1760-47_1760-42del | ENSP00000495543.1:n.1760-47_1760-42del | |
| ENST00000233146.6:c.1760-47_1760-42del | ENSP00000233146.2:n.1760-47_1760-42del | |
| ENST00000406134.5:c.1760-47_1760-42del | ENSP00000384199.1:n.1760-47_1760-42del | |
| ENST00000543555.5:c.1562-47_1562-42del | ENSP00000442697.1:n.1562-47_1562-42del | |
| ENST00000610696.4:c.*156-47_*156-42del | ENSP00000483159.1:n.*156-47_*156-42del | |
| ENST00000613514.4:c.*300-47_*300-42del | ENSP00000484137.1:n.*300-47_*300-42del | |
| ENST00000617333.3:c.*526-47_*526-42del | ENSP00000482468.1:n.*526-47_*526-42del | |
| ENST00000617938.4:c.*732-47_*732-42del | ENSP00000481158.1:n.*732-47_*732-42del | |
| ENST00000621359.2:c.1760-47_1760-42del | ENSP00000481416.1:n.1760-47_1760-42del | |
| NM_000251.2:c.1760-47_1760-42del , LRG_218t1:c.1760-47_1760-42del | NP_000242.1:n.1760-47_1760-42del | |
| NM_001258281.1:c.1562-47_1562-42del | NP_001245210.1:n.1562-47_1562-42del | |
| XM_005264332.2:c.1760-47_1760-42del | XP_005264389.2:n.1760-47_1760-42del | |
| XM_011532867.1:c.1760-47_1760-42del | XP_011531169.1:n.1760-47_1760-42del | |
| XR_939685.1:n.1832-47_1832-42del | ||
| XM_005264332.4:c.1760-47_1760-42del | XP_005264389.2:n.1760-47_1760-42del | |
| XM_011532867.2:c.1760-47_1760-42del | XP_011531169.1:n.1760-47_1760-42del | |
| XR_001738747.2:n.1822-47_1822-42del | ||
| XR_939685.2:n.1822-47_1822-42del | ||
| NM_000251.3:c.1760-47_1760-42del MANE Select | NP_000242.1:n.1760-47_1760-42del |