Linked Data
dbSNP Id:
rs1289479400
gnomAD v2:
11-61727459-AGCTGCTTCC-A
gnomAD v4:
11-61959987-AGCTGCTTCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959990_61959998del , CM000673.2:g.61959990_61959998del | GRCh38 |
| NC_000011.9:g.61727462_61727470del , CM000673.1:g.61727462_61727470del | GRCh37 |
| NC_000011.8:g.61484038_61484046del | NCBI36 |
| NG_009033.1:g.15107_15115del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.1047_1055del (BEST1) MANE Select | ENSP00000367282.4:p.Ala350_Ala352del | |
| ENST00000378043.8:c.1047_1055del (BEST1) | ENSP00000367282.4:p.Ala350_Ala352del | |
| ENST00000449131.6:c.867_875del (BEST1) | ENSP00000399709.2:p.Ala290_Ala292del | |
| ENST00000524877.5:n.2678_2686del (BEST1) | ||
| ENST00000524926.5:c.1250_1258del (BEST1) | ENSP00000432681.1:p.Leu417_Pro419del | |
| ENST00000526988.1:c.932_940del (BEST1) | ENSP00000433195.1:p.Leu311_Pro313del | |
| ENST00000529191.5:c.115-69_115-61del (FTH1) | ENSP00000431659.1:n.115-69_115-61del | |
| ENST00000529631.5:c.115-92_115-84del (FTH1) | ENSP00000431575.1:n.115-92_115-84del | |
| ENST00000530019.5:c.262-92_262-84del (FTH1) | ENSP00000433470.1:n.262-92_262-84del | |
| ENST00000534553.5:c.164-2265_164-2257del (BEST1) | ENSP00000431189.1:n.164-2265_164-2257del | |
| NM_001139443.1:c.867_875del (BEST1) | NP_001132915.1:p.Ala290_Ala292del | |
| NM_001300786.1:c.786_794del (BEST1) | NP_001287715.1:p.Ala263_Ala265del | |
| NM_001300787.1:c.867_875del (BEST1) | NP_001287716.1:p.Ala290_Ala292del | |
| NM_004183.3:c.1047_1055del (BEST1) | NP_004174.1:p.Ala350_Ala352del | |
| XM_005274210.2:c.1047_1055del (BEST1) | XP_005274267.1:p.Ala350_Ala352del | |
| XM_005274215.2:c.729_737del (BEST1) | XP_005274272.1:p.Ala244_Ala246del | |
| XM_005274216.2:c.1070_1078del (BEST1) | XP_005274273.1:p.Leu357_Pro359del | |
| XM_005274218.3:c.932_940del (BEST1) | XP_005274275.1:p.Leu311_Pro313del | |
| XM_005274219.2:c.867+1692_867+1700del (BEST1) | XP_005274276.1:n.867+1692_867+1700del | |
| XM_005274221.2:c.715-2265_715-2257del (BEST1) | XP_005274278.1:n.715-2265_715-2257del | |
| XM_011545229.1:c.1047_1055del (BEST1) | XP_011543531.1:p.Ala350_Ala352del | |
| XM_011545230.1:c.954_962del (BEST1) | XP_011543532.1:p.Ala319_Ala321del | |
| XM_011545231.1:c.729_737del (BEST1) | XP_011543533.1:p.Ala244_Ala246del | |
| XM_011545232.1:c.1250_1258del (BEST1) | XP_011543534.1:p.Leu417_Pro419del | |
| XM_011545233.1:c.204_212del (BEST1) | XP_011543535.1:p.Ala69_Ala71del | |
| NM_001363591.1:c.729_737del (BEST1) | NP_001350520.1:p.Ala244_Ala246del | |
| NM_001363592.1:c.1250_1258del (BEST1) | NP_001350521.1:p.Leu417_Pro419del | |
| NM_001363593.1:c.75_83del (BEST1) | NP_001350522.1:p.Ala26_Ala28del | |
| NR_134580.1:n.1830_1838del (BEST1) | ||
| XM_005274210.4:c.1047_1055del (BEST1) | XP_005274267.1:p.Ala350_Ala352del | |
| XM_005274215.4:c.729_737del (BEST1) | XP_005274272.1:p.Ala244_Ala246del | |
| XM_005274216.4:c.1070_1078del (BEST1) | XP_005274273.1:p.Leu357_Pro359del | |
| XM_005274219.4:c.867+1692_867+1700del (BEST1) | XP_005274276.1:n.867+1692_867+1700del | |
| XM_005274221.4:c.715-2265_715-2257del (BEST1) | XP_005274278.1:n.715-2265_715-2257del | |
| XM_011545229.3:c.1047_1055del (BEST1) | XP_011543531.1:p.Ala350_Ala352del | |
| XM_011545230.3:c.954_962del (BEST1) | XP_011543532.1:p.Ala319_Ala321del | |
| XM_011545233.3:c.204_212del (BEST1) | XP_011543535.1:p.Ala69_Ala71del | |
| XM_017018230.2:c.932_940del (BEST1) | XP_016873719.1:p.Leu311_Pro313del | |
| XR_001747952.2:n.1748_1756del (BEST1) | ||
| XR_001747953.2:n.1557+1692_1557+1700del (BEST1) | ||
| XR_001747954.2:n.1405-2265_1405-2257del (BEST1) | ||
| NM_004183.4:c.1047_1055del (BEST1) MANE Select | NP_004174.1:p.Ala350_Ala352del | |
| NM_001139443.2:c.867_875del (BEST1) | NP_001132915.1:p.Ala290_Ala292del | |
| NM_001300786.2:c.786_794del (BEST1) | NP_001287715.1:p.Ala263_Ala265del | |
| NM_001300787.2:c.867_875del (BEST1) | NP_001287716.1:p.Ala290_Ala292del | |
| NM_001363591.2:c.729_737del (BEST1) | NP_001350520.1:p.Ala244_Ala246del | |
| NM_001363593.2:c.75_83del (BEST1) | NP_001350522.1:p.Ala26_Ala28del | |
| NR_134580.2:n.1363_1371del (BEST1) |