Linked Data
ClinVar Variation Id:
1078189
ClinVar RCV Id:
RCV001392995
dbSNP Id:
rs774668020
ExAC:
11:61727345 TTC / T
gnomAD v2:
11-61727345-TTC-T
gnomAD v3:
11-61959873-TTC-T
gnomAD v4:
11-61959873-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959875_61959876del , CM000673.2:g.61959875_61959876del | GRCh38 |
| NC_000011.9:g.61727347_61727348del , CM000673.1:g.61727347_61727348del | GRCh37 |
| NC_000011.8:g.61483923_61483924del | NCBI36 |
| NG_009033.1:g.14992_14993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.949-17_949-16del (BEST1) MANE Select | ENSP00000367282.4:n.949-17_949-16del | |
| ENST00000378043.8:c.949-17_949-16del (BEST1) | ENSP00000367282.4:n.949-17_949-16del | |
| ENST00000449131.6:c.769-17_769-16del (BEST1) | ENSP00000399709.2:n.769-17_769-16del | |
| ENST00000524877.5:n.2580-17_2580-16del (BEST1) | ||
| ENST00000524926.5:c.1152-17_1152-16del (BEST1) | ENSP00000432681.1:n.1152-17_1152-16del | |
| ENST00000526988.1:c.834-17_834-16del (BEST1) | ENSP00000433195.1:n.834-17_834-16del | |
| ENST00000529191.5:c.167_168del (FTH1) | ENSP00000431659.1:p.Arg56LysfsTer? | |
| ENST00000529631.5:c.144_145del (FTH1) | ENSP00000431575.1:p.Lys49GlufsTer16 | |
| ENST00000530019.5:c.291_292del (FTH1) | ENSP00000433470.1:p.Lys98GlufsTer16 | |
| ENST00000534553.5:c.164-2380_164-2379del (BEST1) | ENSP00000431189.1:n.164-2380_164-2379del | |
| NM_001139443.1:c.769-17_769-16del (BEST1) | NP_001132915.1:n.769-17_769-16del | |
| NM_001300786.1:c.688-17_688-16del (BEST1) | NP_001287715.1:n.688-17_688-16del | |
| NM_001300787.1:c.769-17_769-16del (BEST1) | NP_001287716.1:n.769-17_769-16del | |
| NM_004183.3:c.949-17_949-16del (BEST1) | NP_004174.1:n.949-17_949-16del | |
| XM_005274210.2:c.949-17_949-16del (BEST1) | XP_005274267.1:n.949-17_949-16del | |
| XM_005274215.2:c.631-17_631-16del (BEST1) | XP_005274272.1:n.631-17_631-16del | |
| XM_005274216.2:c.972-17_972-16del (BEST1) | XP_005274273.1:n.972-17_972-16del | |
| XM_005274218.3:c.834-17_834-16del (BEST1) | XP_005274275.1:n.834-17_834-16del | |
| XM_005274219.2:c.867+1577_867+1578del (BEST1) | XP_005274276.1:n.867+1577_867+1578del | |
| XM_005274221.2:c.715-2380_715-2379del (BEST1) | XP_005274278.1:n.715-2380_715-2379del | |
| XM_011545229.1:c.949-17_949-16del (BEST1) | XP_011543531.1:n.949-17_949-16del | |
| XM_011545230.1:c.856-17_856-16del (BEST1) | XP_011543532.1:n.856-17_856-16del | |
| XM_011545231.1:c.631-17_631-16del (BEST1) | XP_011543533.1:n.631-17_631-16del | |
| XM_011545232.1:c.1152-17_1152-16del (BEST1) | XP_011543534.1:n.1152-17_1152-16del | |
| XM_011545233.1:c.106-17_106-16del (BEST1) | XP_011543535.1:n.106-17_106-16del | |
| NM_001363591.1:c.631-17_631-16del (BEST1) | NP_001350520.1:n.631-17_631-16del | |
| NM_001363592.1:c.1152-17_1152-16del (BEST1) | NP_001350521.1:n.1152-17_1152-16del | |
| NM_001363593.1:c.-24-17_-24-16del (BEST1) | NP_001350522.1:n.-24-17_-24-16del | |
| NR_134580.1:n.1732-17_1732-16del (BEST1) | ||
| XM_005274210.4:c.949-17_949-16del (BEST1) | XP_005274267.1:n.949-17_949-16del | |
| XM_005274215.4:c.631-17_631-16del (BEST1) | XP_005274272.1:n.631-17_631-16del | |
| XM_005274216.4:c.972-17_972-16del (BEST1) | XP_005274273.1:n.972-17_972-16del | |
| XM_005274219.4:c.867+1577_867+1578del (BEST1) | XP_005274276.1:n.867+1577_867+1578del | |
| XM_005274221.4:c.715-2380_715-2379del (BEST1) | XP_005274278.1:n.715-2380_715-2379del | |
| XM_011545229.3:c.949-17_949-16del (BEST1) | XP_011543531.1:n.949-17_949-16del | |
| XM_011545230.3:c.856-17_856-16del (BEST1) | XP_011543532.1:n.856-17_856-16del | |
| XM_011545233.3:c.106-17_106-16del (BEST1) | XP_011543535.1:n.106-17_106-16del | |
| XM_017018230.2:c.834-17_834-16del (BEST1) | XP_016873719.1:n.834-17_834-16del | |
| XR_001747952.2:n.1650-17_1650-16del (BEST1) | ||
| XR_001747953.2:n.1557+1577_1557+1578del (BEST1) | ||
| XR_001747954.2:n.1405-2380_1405-2379del (BEST1) | ||
| XR_001748245.1:n.53_54del | ||
| XR_002957249.1:n.53_54del | ||
| NM_004183.4:c.949-17_949-16del (BEST1) MANE Select | NP_004174.1:n.949-17_949-16del | |
| NM_001139443.2:c.769-17_769-16del (BEST1) | NP_001132915.1:n.769-17_769-16del | |
| NM_001300786.2:c.688-17_688-16del (BEST1) | NP_001287715.1:n.688-17_688-16del | |
| NM_001300787.2:c.769-17_769-16del (BEST1) | NP_001287716.1:n.769-17_769-16del | |
| NM_001363591.2:c.631-17_631-16del (BEST1) | NP_001350520.1:n.631-17_631-16del | |
| NM_001363593.2:c.-24-17_-24-16del (BEST1) | NP_001350522.1:n.-24-17_-24-16del | |
| NR_134580.2:n.1265-17_1265-16del (BEST1) |