Linked Data
dbSNP Id:
rs1553142560
gnomAD v3:
1-46932319-A-ACTAGTGAATTAAAT
gnomAD v4:
1-46932319-A-ACTAGTGAATTAAAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932320_46932333dup , CM000663.2:g.46932320_46932333dup | GRCh38 |
| NC_000001.10:g.47397992_47398005dup , CM000663.1:g.47397992_47398005dup | GRCh37 |
| NC_000001.9:g.47170579_47170592dup | NCBI36 |
| NG_007932.1:g.14152_14165dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1364+428_1364+441dup MANE Select | ENSP00000311095.4:n.1364+428_1364+441dup | |
| ENST00000310638.8:c.1364+428_1364+441dup | ENSP00000311095.4:n.1364+428_1364+441dup | |
| ENST00000371904.8:c.1367+428_1367+441dup | ENSP00000360971.4:n.1367+428_1367+441dup | |
| ENST00000462347.5:c.1070+428_1070+441dup | ENSP00000477495.1:n.1070+428_1070+441dup | |
| ENST00000465874.5:c.*590_*603dup | ENSP00000476368.1:n.*590_*603dup | |
| ENST00000468629.5:c.*69+428_*69+441dup | ENSP00000476619.1:n.*69+428_*69+441dup | |
| ENST00000474458.5:c.*69+428_*69+441dup | ENSP00000476988.1:n.*69+428_*69+441dup | |
| ENST00000475477.5:c.*158+428_*158+441dup | ENSP00000476854.1:n.*158+428_*158+441dup | |
| NM_000778.3:c.1364+428_1364+441dup | NP_000769.2:n.1364+428_1364+441dup | |
| XM_011540826.1:c.1382+428_1382+441dup | XP_011539128.1:n.1382+428_1382+441dup | |
| XM_011540827.1:c.1088+428_1088+441dup | XP_011539129.1:n.1088+428_1088+441dup | |
| XM_011540828.1:c.1070+428_1070+441dup | XP_011539130.1:n.1070+428_1070+441dup | |
| XR_246241.1:n.1268+428_1268+441dup | ||
| XR_246242.1:n.1252+428_1252+441dup | ||
| NM_001319155.1:c.1268+428_1268+441dup | NP_001306084.1:n.1268+428_1268+441dup | |
| NM_001363587.1:c.1070+428_1070+441dup | NP_001350516.1:n.1070+428_1070+441dup | |
| NR_134988.1:n.1069+428_1069+441dup | ||
| NR_134989.1:n.1260+428_1260+441dup | ||
| NR_134990.1:n.1254+428_1254+441dup | ||
| NR_134991.1:n.1241+428_1241+441dup | ||
| NR_134992.1:n.870+428_870+441dup | ||
| NR_134993.1:n.1004+428_1004+441dup | ||
| NR_134994.1:n.1276+428_1276+441dup | ||
| XM_017000465.1:c.1052+428_1052+441dup | XP_016855954.1:n.1052+428_1052+441dup | |
| XR_001737005.1:n.1342+428_1342+441dup | ||
| NM_000778.4:c.1364+428_1364+441dup MANE Select | NP_000769.2:n.1364+428_1364+441dup | |
| NM_001319155.2:c.1268+428_1268+441dup | NP_001306084.1:n.1268+428_1268+441dup | |
| NM_001363587.2:c.1070+428_1070+441dup | NP_001350516.1:n.1070+428_1070+441dup | |
| NR_134988.2:n.1061+428_1061+441dup | ||
| NR_134989.2:n.1252+428_1252+441dup | ||
| NR_134990.2:n.1246+428_1246+441dup | ||
| NR_134991.2:n.1233+428_1233+441dup | ||
| NR_134992.2:n.862+428_862+441dup | ||
| NR_134993.2:n.996+428_996+441dup | ||
| NR_134994.2:n.1268+428_1268+441dup |