Linked Data
dbSNP Id:
rs373015881
ExAC:
11:61727340 ACTT / A
gnomAD v2:
11-61727340-ACTT-A
gnomAD v3:
11-61959868-ACTT-A
gnomAD v4:
11-61959868-ACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959874_61959876del , CM000673.2:g.61959874_61959876del | GRCh38 |
| NC_000011.9:g.61727346_61727348del , CM000673.1:g.61727346_61727348del | GRCh37 |
| NC_000011.8:g.61483922_61483924del | NCBI36 |
| NG_009033.1:g.14991_14993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.949-18_949-16del (BEST1) MANE Select | ENSP00000367282.4:n.949-18_949-16del | |
| ENST00000378043.8:c.949-18_949-16del (BEST1) | ENSP00000367282.4:n.949-18_949-16del | |
| ENST00000449131.6:c.769-18_769-16del (BEST1) | ENSP00000399709.2:n.769-18_769-16del | |
| ENST00000524877.5:n.2580-18_2580-16del (BEST1) | ||
| ENST00000524926.5:c.1152-18_1152-16del (BEST1) | ENSP00000432681.1:n.1152-18_1152-16del | |
| ENST00000526988.1:c.834-18_834-16del (BEST1) | ENSP00000433195.1:n.834-18_834-16del | |
| ENST00000529191.5:c.171_173del (FTH1) | ENSP00000431659.1:p.Arg57del | |
| ENST00000529631.5:c.148_150del (FTH1) | ENSP00000431575.1:p.Lys50del | |
| ENST00000530019.5:c.295_297del (FTH1) | ENSP00000433470.1:p.Lys99del | |
| ENST00000534553.5:c.164-2381_164-2379del (BEST1) | ENSP00000431189.1:n.164-2381_164-2379del | |
| NM_001139443.1:c.769-18_769-16del (BEST1) | NP_001132915.1:n.769-18_769-16del | |
| NM_001300786.1:c.688-18_688-16del (BEST1) | NP_001287715.1:n.688-18_688-16del | |
| NM_001300787.1:c.769-18_769-16del (BEST1) | NP_001287716.1:n.769-18_769-16del | |
| NM_004183.3:c.949-18_949-16del (BEST1) | NP_004174.1:n.949-18_949-16del | |
| XM_005274210.2:c.949-18_949-16del (BEST1) | XP_005274267.1:n.949-18_949-16del | |
| XM_005274215.2:c.631-18_631-16del (BEST1) | XP_005274272.1:n.631-18_631-16del | |
| XM_005274216.2:c.972-18_972-16del (BEST1) | XP_005274273.1:n.972-18_972-16del | |
| XM_005274218.3:c.834-18_834-16del (BEST1) | XP_005274275.1:n.834-18_834-16del | |
| XM_005274219.2:c.867+1576_867+1578del (BEST1) | XP_005274276.1:n.867+1576_867+1578del | |
| XM_005274221.2:c.715-2381_715-2379del (BEST1) | XP_005274278.1:n.715-2381_715-2379del | |
| XM_011545229.1:c.949-18_949-16del (BEST1) | XP_011543531.1:n.949-18_949-16del | |
| XM_011545230.1:c.856-18_856-16del (BEST1) | XP_011543532.1:n.856-18_856-16del | |
| XM_011545231.1:c.631-18_631-16del (BEST1) | XP_011543533.1:n.631-18_631-16del | |
| XM_011545232.1:c.1152-18_1152-16del (BEST1) | XP_011543534.1:n.1152-18_1152-16del | |
| XM_011545233.1:c.106-18_106-16del (BEST1) | XP_011543535.1:n.106-18_106-16del | |
| NM_001363591.1:c.631-18_631-16del (BEST1) | NP_001350520.1:n.631-18_631-16del | |
| NM_001363592.1:c.1152-18_1152-16del (BEST1) | NP_001350521.1:n.1152-18_1152-16del | |
| NM_001363593.1:c.-24-18_-24-16del (BEST1) | NP_001350522.1:n.-24-18_-24-16del | |
| NR_134580.1:n.1732-18_1732-16del (BEST1) | ||
| XM_005274210.4:c.949-18_949-16del (BEST1) | XP_005274267.1:n.949-18_949-16del | |
| XM_005274215.4:c.631-18_631-16del (BEST1) | XP_005274272.1:n.631-18_631-16del | |
| XM_005274216.4:c.972-18_972-16del (BEST1) | XP_005274273.1:n.972-18_972-16del | |
| XM_005274219.4:c.867+1576_867+1578del (BEST1) | XP_005274276.1:n.867+1576_867+1578del | |
| XM_005274221.4:c.715-2381_715-2379del (BEST1) | XP_005274278.1:n.715-2381_715-2379del | |
| XM_011545229.3:c.949-18_949-16del (BEST1) | XP_011543531.1:n.949-18_949-16del | |
| XM_011545230.3:c.856-18_856-16del (BEST1) | XP_011543532.1:n.856-18_856-16del | |
| XM_011545233.3:c.106-18_106-16del (BEST1) | XP_011543535.1:n.106-18_106-16del | |
| XM_017018230.2:c.834-18_834-16del (BEST1) | XP_016873719.1:n.834-18_834-16del | |
| XR_001747952.2:n.1650-18_1650-16del (BEST1) | ||
| XR_001747953.2:n.1557+1576_1557+1578del (BEST1) | ||
| XR_001747954.2:n.1405-2381_1405-2379del (BEST1) | ||
| XR_001748245.1:n.57_59del | ||
| XR_002957249.1:n.57_59del | ||
| NM_004183.4:c.949-18_949-16del (BEST1) MANE Select | NP_004174.1:n.949-18_949-16del | |
| NM_001139443.2:c.769-18_769-16del (BEST1) | NP_001132915.1:n.769-18_769-16del | |
| NM_001300786.2:c.688-18_688-16del (BEST1) | NP_001287715.1:n.688-18_688-16del | |
| NM_001300787.2:c.769-18_769-16del (BEST1) | NP_001287716.1:n.769-18_769-16del | |
| NM_001363591.2:c.631-18_631-16del (BEST1) | NP_001350520.1:n.631-18_631-16del | |
| NM_001363593.2:c.-24-18_-24-16del (BEST1) | NP_001350522.1:n.-24-18_-24-16del | |
| NR_134580.2:n.1265-18_1265-16del (BEST1) |