Linked Data
dbSNP Id:
rs749132507
ExAC:
2:25463235 CAGA / C
gnomAD v2:
2-25463235-CAGA-C
gnomAD v3:
2-25240366-CAGA-C
gnomAD v4:
2-25240366-CAGA-C
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25240372_25240374del , CM000664.2:g.25240372_25240374del | GRCh38 |
| NC_000002.11:g.25463241_25463243del , CM000664.1:g.25463241_25463243del | GRCh37 |
| NC_000002.10:g.25316745_25316747del | NCBI36 |
| NG_029465.2:g.107222_107224del , LRG_459:g.107222_107224del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.574_576del | ||
| ENST00000683393.1:c.1401_1403del | ENSP00000508654.1:n.1401_1403del | |
| ENST00000683760.1:c.1586_1588del | ENSP00000507765.1:p.Phe529del | |
| ENST00000321117.10:c.2255_2257del MANE Select | ENSP00000324375.5:p.Phe752del | |
| ENST00000264709.7:c.2255_2257del | ENSP00000264709.3:p.Phe752del | |
| ENST00000321117.9:c.2255_2257del | ENSP00000324375.5:p.Phe752del | |
| ENST00000380746.8:c.1688_1690del | ENSP00000370122.4:p.Phe563del | |
| ENST00000380756.7:c.2255_2257del | ENSP00000370132.3:p.Phe752del | |
| ENST00000402667.1:c.1586_1588del | ENSP00000384237.1:p.Phe529del | |
| ENST00000461228.1:n.474_476del | ||
| ENST00000466601.5:n.627_629del | ||
| ENST00000474887.5:n.574_576del | ||
| ENST00000482935.5:n.255_257del | ||
| ENST00000491288.5:n.310+271_310+273del | ||
| NM_022552.4:c.2255_2257del , LRG_459t1:c.2255_2257del | NP_072046.2:p.Phe752del | |
| NM_153759.3:c.1688_1690del , LRG_459t2:c.1688_1690del | NP_715640.2:p.Phe563del | |
| NM_175629.2:c.2255_2257del , LRG_459t4:c.2255_2257del | NP_783328.1:p.Phe752del | |
| XM_005264175.3:c.2255_2257del | XP_005264232.1:p.Phe752del | |
| XM_005264177.3:c.1586_1588del | XP_005264234.1:p.Phe529del | |
| XM_006711957.2:c.2255_2257del | XP_006712020.1:p.Phe752del | |
| XM_006711958.2:c.1811_1813del | XP_006712021.1:p.Phe604del | |
| XM_011532662.1:c.2108_2110del | XP_011530964.1:p.Phe703del | |
| XM_011532663.1:c.2090_2092del | XP_011530965.1:p.Phe697del | |
| XM_011532664.1:c.2255_2257del | XP_011530966.1:p.Phe752del | |
| XM_011532665.1:c.1799_1801del | XP_011530967.1:p.Phe600del | |
| XM_011532666.1:c.1727_1729del | XP_011530968.1:p.Phe576del | |
| XM_011532667.1:c.1586_1588del | XP_011530969.1:p.Phe529del | |
| XM_011532668.1:c.2255_2257del | XP_011530970.1:p.Phe752del | |
| NM_001320893.1:c.1799_1801del | NP_001307822.1:p.Phe600del | |
| NR_135490.1:n.2593_2595del | ||
| XM_005264175.5:c.2255_2257del | XP_005264232.1:p.Phe752del | |
| XM_005264177.4:c.1586_1588del | XP_005264234.1:p.Phe529del | |
| XM_011532662.2:c.2108_2110del | XP_011530964.1:p.Phe703del | |
| XM_011532663.2:c.2090_2092del | XP_011530965.1:p.Phe697del | |
| XM_011532664.2:c.2255_2257del | XP_011530966.1:p.Phe752del | |
| XM_011532666.2:c.1727_1729del | XP_011530968.1:p.Phe576del | |
| XM_011532667.3:c.1586_1588del | XP_011530969.1:p.Phe529del | |
| XM_017003526.1:c.2255_2257del | XP_016859015.1:p.Phe752del | |
| XM_017003527.1:c.1586_1588del | XP_016859016.1:p.Phe529del | |
| XR_001738657.1:n.2532_2534del | ||
| NM_001375819.1:c.1586_1588del | NP_001362748.1:p.Phe529del | |
| NR_135490.2:n.2486_2488del | ||
| NM_022552.5:c.2255_2257del MANE Select | NP_072046.2:p.Phe752del |