Linked Data
dbSNP Id:
rs1555848965
gnomAD v3:
20-44651631-T-TGCTCCCTCCGCCGCC
gnomAD v4:
20-44651631-T-TGCTCCCTCCGCCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44651636_44651650dup , CM000682.2:g.44651636_44651650dup | GRCh38 |
| NC_000020.10:g.43280277_43280291dup , CM000682.1:g.43280277_43280291dup | GRCh37 |
| NC_000020.9:g.42713691_42713705dup | NCBI36 |
| NG_007385.1:g.5090_5104dup , LRG_16:g.5090_5104dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.53_67dup | ||
| ENST00000536076.2:c.-121+256_-121+270dup | ENSP00000512234.1:n.-121+256_-121+270dup | |
| ENST00000536532.6:c.-39_-25dup | ENSP00000440946.1:n.-39_-25dup | |
| ENST00000537820.2:c.-39_-25dup | ENSP00000441818.1:n.-39_-25dup | |
| ENST00000539235.6:c.-39_-25dup | ENSP00000446464.1:n.-39_-25dup | |
| ENST00000695889.1:c.-39_-25dup | ENSP00000512240.1:n.-39_-25dup | |
| ENST00000695949.1:c.-39_-25dup | ENSP00000512281.1:n.-39_-25dup | |
| ENST00000695957.1:c.-39_-25dup | ENSP00000512286.1:n.-39_-25dup | |
| ENST00000695991.1:c.-39_-25dup | ENSP00000512314.1:n.-39_-25dup | |
| ENST00000695992.1:c.-39_-25dup | ENSP00000512315.1:n.-39_-25dup | |
| ENST00000695993.1:c.-39_-25dup | ENSP00000512316.1:n.-39_-25dup | |
| ENST00000695994.1:c.-39_-25dup | ENSP00000512317.1:n.-39_-25dup | |
| ENST00000695995.1:c.-39_-25dup | ENSP00000512318.1:n.-39_-25dup | |
| ENST00000695996.1:n.33_47dup | ||
| ENST00000695997.1:n.33_47dup | ||
| ENST00000696003.1:n.54_68dup | ||
| ENST00000696004.1:n.54_68dup | ||
| ENST00000696006.1:c.-39_-25dup | ENSP00000512325.1:n.-39_-25dup | |
| ENST00000696009.1:n.73_87dup | ||
| ENST00000696010.1:n.75_89dup | ||
| ENST00000696017.1:c.-39_-25dup | ENSP00000512333.1:n.-39_-25dup | |
| ENST00000696034.1:c.-39_-25dup | ENSP00000512343.1:n.-39_-25dup | |
| ENST00000696038.1:c.-39_-25dup | ENSP00000512344.1:n.-39_-25dup | |
| ENST00000696039.1:n.321+256_321+270dup | ||
| ENST00000696058.1:c.-39_-25dup | ENSP00000512361.1:n.-39_-25dup | |
| ENST00000696059.1:c.-39_-25dup | ENSP00000512362.1:n.-39_-25dup | |
| ENST00000696060.1:c.-39_-25dup | ENSP00000512363.1:n.-39_-25dup | |
| ENST00000696061.1:c.-39_-25dup | ENSP00000512364.1:n.-39_-25dup | |
| ENST00000696062.1:c.96+454_96+468dup | ENSP00000512365.1:n.96+454_96+468dup | |
| ENST00000696063.1:c.-39_-25dup | ENSP00000512366.1:n.-39_-25dup | |
| ENST00000696064.1:c.-118+256_-118+270dup | ENSP00000512367.1:n.-118+256_-118+270dup | |
| ENST00000696065.1:c.-121+256_-121+270dup | ENSP00000512368.1:n.-121+256_-121+270dup | |
| ENST00000696075.1:c.-39_-25dup | ENSP00000512374.1:n.-39_-25dup | |
| ENST00000696076.1:c.-39_-25dup | ENSP00000512375.1:n.-39_-25dup | |
| ENST00000696077.1:c.-39_-25dup | ENSP00000512376.1:n.-39_-25dup | |
| ENST00000696078.1:c.-39_-25dup | ENSP00000512377.1:n.-39_-25dup | |
| ENST00000696079.1:c.-39_-25dup | ENSP00000512378.1:n.-39_-25dup | |
| ENST00000696080.1:c.-39_-25dup | ENSP00000512379.1:n.-39_-25dup | |
| ENST00000696084.1:n.63_77dup | ||
| ENST00000696104.1:c.-39_-25dup | ENSP00000512399.1:n.-39_-25dup | |
| ENST00000696105.1:c.-39_-25dup | ENSP00000512400.1:n.-39_-25dup | |
| ENST00000372874.9:c.-39_-25dup MANE Select | ENSP00000361965.4:n.-39_-25dup | |
| ENST00000372874.8:c.-39_-25dup | ENSP00000361965.4:n.-39_-25dup | |
| ENST00000492931.5:n.46_60dup | ||
| ENST00000535573.1:n.332+256_332+270dup | ||
| ENST00000536076.1:n.213+256_213+270dup | ||
| ENST00000536532.5:c.-39_-25dup | ENSP00000440946.1:n.-39_-25dup | |
| ENST00000537820.1:c.-39_-25dup | ENSP00000441818.1:n.-39_-25dup | |
| ENST00000539235.5:c.-39_-25dup | ENSP00000446464.1:n.-39_-25dup | |
| ENST00000545776.5:n.16_30dup | ||
| NM_000022.2:c.-39_-25dup , LRG_16t1:c.-39_-25dup | NP_000013.2:n.-39_-25dup | |
| XM_005260236.2:c.-39_-25dup | XP_005260293.1:n.-39_-25dup | |
| XM_011528478.1:c.-328_-314dup | XP_011526780.1:n.-328_-314dup | |
| XM_011528479.1:c.-257+256_-257+270dup | XP_011526781.1:n.-257+256_-257+270dup | |
| XR_244129.1:n.16_30dup | ||
| NM_000022.3:c.-39_-25dup | NP_000013.2:n.-39_-25dup | |
| NM_001322050.1:c.-328_-314dup | NP_001308979.1:n.-328_-314dup | |
| NM_001322051.1:c.-39_-25dup | NP_001308980.1:n.-39_-25dup | |
| NR_136160.1:n.113_127dup | ||
| NM_000022.4:c.-39_-25dup MANE Select | NP_000013.2:n.-39_-25dup | |
| NM_001322050.2:c.-328_-314dup | NP_001308979.1:n.-328_-314dup | |
| NM_001322051.2:c.-39_-25dup | NP_001308980.1:n.-39_-25dup | |
| NR_136160.2:n.54_68dup |