Linked Data
ClinVar Variation Id:
2739
ClinVar RCV Id:
RCV003152665
dbSNP Id:
rs281865528
ExAC:
11:61730093 TCA / T
gnomAD v2:
11-61730093-TCA-T
gnomAD v3:
11-61962621-TCA-T
gnomAD v4:
11-61962621-TCA-T
MyVariant Identifiers:
chr11:g.61730096_61730097del (hg19)
chr11:g.61730094_61730095del (hg19)
chr11:g.61962624_61962625del (hg38)
chr11:g.61962622_61962623del (hg38)
PubMed:
PMID:10331951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61962624_61962625del , CM000673.2:g.61962624_61962625del | GRCh38 |
| NC_000011.9:g.61730096_61730097del , CM000673.1:g.61730096_61730097del | GRCh37 |
| NC_000011.8:g.61486672_61486673del | NCBI36 |
| NG_008346.1:g.10038_10039del | |
| NG_009033.1:g.17741_17742del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378043.9:c.1470_1471del (BEST1) MANE Select | ENSP00000367282.4:p.His490GlnfsTer24 | |
| ENST00000378043.8:c.1470_1471del (BEST1) | ENSP00000367282.4:p.His490GlnfsTer24 | |
| ENST00000449131.6:c.1290_1291del (BEST1) | ENSP00000399709.2:p.His430GlnfsTer24 | |
| ENST00000524877.5:n.5312_5313del (BEST1) | ||
| ENST00000524926.5:c.*365_*366del (BEST1) | ENSP00000432681.1:n.*365_*366del | |
| ENST00000529191.5:c.115-2696_115-2695del (FTH1) | ENSP00000431659.1:n.115-2696_115-2695del | |
| ENST00000529631.5:c.115-2719_115-2718del (FTH1) | ENSP00000431575.1:n.115-2719_115-2718del | |
| ENST00000530019.5:c.262-2719_262-2718del (FTH1) | ENSP00000433470.1:n.262-2719_262-2718del | |
| ENST00000534553.5:c.*365_*366del (BEST1) | ENSP00000431189.1:n.*365_*366del | |
| NM_001139443.1:c.1290_1291del (BEST1) | NP_001132915.1:p.His430GlnfsTer24 | |
| NM_001300786.1:c.1209_1210del (BEST1) | NP_001287715.1:p.His403GlnfsTer24 | |
| NM_001300787.1:c.1290_1291del (BEST1) | NP_001287716.1:p.His430GlnfsTer24 | |
| NM_004183.3:c.1470_1471del (BEST1) | NP_004174.1:p.His490GlnfsTer24 | |
| XM_005274210.2:c.1470_1471del (BEST1) | XP_005274267.1:p.His490GlnfsTer24 | |
| XM_005274215.2:c.1152_1153del (BEST1) | XP_005274272.1:p.His384GlnfsTer24 | |
| XM_005274216.2:c.*365_*366del (BEST1) | XP_005274273.1:n.*365_*366del | |
| XM_005274218.3:c.*365_*366del (BEST1) | XP_005274275.1:n.*365_*366del | |
| XM_005274219.2:c.*271_*272del (BEST1) | XP_005274276.1:n.*271_*272del | |
| XM_005274221.2:c.*271_*272del (BEST1) | XP_005274278.1:n.*271_*272del | |
| XM_011545229.1:c.1470_1471del (BEST1) | XP_011543531.1:p.His490GlnfsTer24 | |
| XM_011545230.1:c.1377_1378del (BEST1) | XP_011543532.1:p.His459GlnfsTer24 | |
| XM_011545231.1:c.1152_1153del (BEST1) | XP_011543533.1:p.His384GlnfsTer24 | |
| XM_011545232.1:c.*365_*366del (BEST1) | XP_011543534.1:n.*365_*366del | |
| XM_011545233.1:c.627_628del (BEST1) | XP_011543535.1:p.His209GlnfsTer24 | |
| NM_001363591.1:c.1152_1153del (BEST1) | NP_001350520.1:p.His384GlnfsTer24 | |
| NM_001363592.1:c.*365_*366del (BEST1) | NP_001350521.1:n.*365_*366del | |
| NM_001363593.1:c.498_499del (BEST1) | NP_001350522.1:p.His166GlnfsTer24 | |
| NR_134580.1:n.2253_2254del (BEST1) | ||
| XM_005274210.4:c.1470_1471del (BEST1) | XP_005274267.1:p.His490GlnfsTer24 | |
| XM_005274215.4:c.1152_1153del (BEST1) | XP_005274272.1:p.His384GlnfsTer24 | |
| XM_005274216.4:c.*365_*366del (BEST1) | XP_005274273.1:n.*365_*366del | |
| XM_005274219.4:c.*271_*272del (BEST1) | XP_005274276.1:n.*271_*272del | |
| XM_005274221.4:c.*271_*272del (BEST1) | XP_005274278.1:n.*271_*272del | |
| XM_011545229.3:c.1470_1471del (BEST1) | XP_011543531.1:p.His490GlnfsTer24 | |
| XM_011545230.3:c.1377_1378del (BEST1) | XP_011543532.1:p.His459GlnfsTer24 | |
| XM_011545233.3:c.627_628del (BEST1) | XP_011543535.1:p.His209GlnfsTer24 | |
| XM_017018230.2:c.*365_*366del (BEST1) | XP_016873719.1:n.*365_*366del | |
| XR_001747952.2:n.2171_2172del (BEST1) | ||
| XR_001747953.2:n.1927_1928del (BEST1) | ||
| XR_001747954.2:n.1774_1775del (BEST1) | ||
| NM_004183.4:c.1470_1471del (BEST1) MANE Select | NP_004174.1:p.His490GlnfsTer24 | |
| NM_001139443.2:c.1290_1291del (BEST1) | NP_001132915.1:p.His430GlnfsTer24 | |
| NM_001300786.2:c.1209_1210del (BEST1) | NP_001287715.1:p.His403GlnfsTer24 | |
| NM_001300787.2:c.1290_1291del (BEST1) | NP_001287716.1:p.His430GlnfsTer24 | |
| NM_001363591.2:c.1152_1153del (BEST1) | NP_001350520.1:p.His384GlnfsTer24 | |
| NM_001363593.2:c.498_499del (BEST1) | NP_001350522.1:p.His166GlnfsTer24 | |
| NR_134580.2:n.1786_1787del (BEST1) |