Linked Data
ClinVar Variation Id:
14279
dbSNP Id:
rs797044443
ExAC:
1:237044098 GTAA / G
gnomAD v2:
1-237044098-GTAA-G
gnomAD v3:
1-236880798-GTAA-G
gnomAD v4:
1-236880798-GTAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236880800_236880802del , CM000663.2:g.236880800_236880802del | GRCh38 |
| NC_000001.10:g.237044100_237044102del , CM000663.1:g.237044100_237044102del | GRCh37 |
| NC_000001.9:g.235110723_235110725del | NCBI36 |
| NG_008959.1:g.90520_90522del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.2640_2642del MANE Select | ENSP00000355536.5:p.Ile881del | |
| ENST00000535889.6:c.2487_2489del | ENSP00000441845.1:p.Ile830del | |
| ENST00000650888.1:c.*1682_*1684del | ENSP00000498393.1:n.*1682_*1684del | |
| ENST00000651455.1:c.*1384_*1386del | ENSP00000498963.1:n.*1384_*1386del | |
| ENST00000674797.2:c.2292_2294del | ENSP00000502299.2:p.Ile765del | |
| ENST00000679569.1:n.2954_2956del | ||
| ENST00000679842.1:c.2451_2453del | ENSP00000506109.1:p.Ile818del | |
| ENST00000680454.1:n.3084_3086del | ||
| ENST00000681102.1:c.2460_2462del | ENSP00000505600.1:p.Ile821del | |
| ENST00000681177.1:c.2202_2204del | ENSP00000506327.1:p.Ile735del | |
| ENST00000681937.1:n.2834_2836del | ||
| ENST00000366576.3:c.1302_1304del | ENSP00000355535.3:p.Ile435del | |
| ENST00000366577.9:c.2640_2642del | ENSP00000355536.5:p.Ile881del | |
| ENST00000535889.5:c.2487_2489del | ENSP00000441845.1:p.Ile830del | |
| NM_000254.2:c.2640_2642del | NP_000245.2:p.Ile881del | |
| NM_001291939.1:c.2487_2489del | NP_001278868.1:p.Ile830del | |
| NM_001291940.1:c.1419_1421del | NP_001278869.1:p.Ile474del | |
| XM_005273141.3:c.2637_2639del | XP_005273198.1:p.Ile880del | |
| XM_006711769.2:c.2640_2642del | XP_006711832.1:p.Ile881del | |
| XM_006711770.1:c.1704_1706del | XP_006711833.1:p.Ile569del | |
| XM_011544193.1:c.2451_2453del | XP_011542495.1:p.Ile818del | |
| XM_011544194.1:c.2808_2810del | XP_011542496.1:p.Ile937del | |
| XM_005273141.5:c.2637_2639del | XP_005273198.1:p.Ile880del | |
| XM_006711770.3:c.1704_1706del | XP_006711833.1:p.Ile569del | |
| XM_011544194.3:c.2808_2810del | XP_011542496.1:p.Ile937del | |
| XM_017001329.2:c.2655_2657del | XP_016856818.1:p.Ile886del | |
| XM_017001330.2:c.2619_2621del | XP_016856819.1:p.Ile874del | |
| NM_001291940.2:c.1419_1421del | NP_001278869.1:p.Ile474del | |
| NM_000254.3:c.2640_2642del MANE Select | NP_000245.2:p.Ile881del |