Linked Data
ClinVar Variation Id:
408542
dbSNP Id:
rs766906365
ExAC:
2:47707929 TGAG / T
gnomAD v2:
2-47707929-TGAG-T
gnomAD v3:
2-47480790-TGAG-T
gnomAD v4:
2-47480790-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47480794_47480796del , CM000664.2:g.47480794_47480796del | GRCh38 |
| NC_000002.11:g.47707933_47707935del , CM000664.1:g.47707933_47707935del | GRCh37 |
| NC_000002.10:g.47561437_47561439del | NCBI36 |
| NG_007110.2:g.82671_82673del , LRG_218:g.82671_82673del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2557_2559del | ENSP00000495641.2:p.Glu853del | |
| ENST00000233146.7:c.2557_2559del MANE Select | ENSP00000233146.2:p.Glu853del | |
| ENST00000543555.6:c.2359_2361del | ENSP00000442697.1:p.Glu787del | |
| ENST00000644092.1:c.*857_*859del | ENSP00000496351.1:n.*857_*859del | |
| ENST00000644900.1:c.410_412del | ||
| ENST00000645339.1:c.2557_2559del | ENSP00000496441.1:p.Glu853del | |
| ENST00000645506.1:c.2557_2559del | ENSP00000495455.1:p.Glu853del | |
| ENST00000646415.1:c.2557_2559del | ENSP00000495543.1:p.Glu853del | |
| ENST00000233146.6:c.2557_2559del | ENSP00000233146.2:p.Glu853del | |
| ENST00000406134.5:c.2557_2559del | ENSP00000384199.1:p.Glu853del | |
| ENST00000543555.5:c.2359_2361del | ENSP00000442697.1:p.Glu787del | |
| ENST00000610696.4:c.*953_*955del | ENSP00000483159.1:n.*953_*955del | |
| ENST00000613514.4:c.*1097_*1099del | ENSP00000484137.1:n.*1097_*1099del | |
| ENST00000617333.3:c.*1323_*1325del | ENSP00000482468.1:n.*1323_*1325del | |
| ENST00000617938.4:c.*1529_*1531del | ENSP00000481158.1:n.*1529_*1531del | |
| ENST00000621359.2:c.*123_*125del | ENSP00000481416.1:n.*123_*125del | |
| NM_000251.2:c.2557_2559del , LRG_218t1:c.2557_2559del | NP_000242.1:p.Glu853del | |
| NM_001258281.1:c.2359_2361del | NP_001245210.1:p.Glu787del | |
| XM_005264332.2:c.2557_2559del | XP_005264389.2:p.Glu853del | |
| XM_011532867.1:c.2557_2559del | XP_011531169.1:p.Glu853del | |
| XR_939685.1:n.2629_2631del | ||
| XM_005264332.4:c.2557_2559del | XP_005264389.2:p.Glu853del | |
| XM_011532867.2:c.2557_2559del | XP_011531169.1:p.Glu853del | |
| XR_001738747.2:n.2619_2621del | ||
| XR_939685.2:n.2619_2621del | ||
| NM_000251.3:c.2557_2559del MANE Select | NP_000242.1:p.Glu853del |