Linked Data
dbSNP Id:
rs1305225280
gnomAD v2:
20-13782341-G-GAAAACAAAA
MyVariant Identifiers:
chr20:g.13782341_13782342insAAAACAAAA (hg19)
chr20:g.13801695_13801696insAAAACAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13801695_13801696insAAAACAAAA , CM000682.2:g.13801695_13801696insAAAACAAAA | GRCh38 |
| NC_000020.10:g.13782341_13782342insAAAACAAAA , CM000682.1:g.13782341_13782342insAAAACAAAA | GRCh37 |
| NC_000020.9:g.13730341_13730342insAAAACAAAA | NCBI36 |
| NG_015811.1:g.21670_21671insAAAACAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.717+12_717+13insAAAACAAAA MANE Select | ENSP00000367346.5:n.717+12_717+13insAAAACAAAA | |
| ENST00000378081.9:c.717+12_717+13insAAAACAAAA | ENSP00000437325.1:n.717+12_717+13insAAAACAAAA | |
| ENST00000378106.9:c.717+12_717+13insAAAACAAAA | ENSP00000367346.5:n.717+12_717+13insAAAACAAAA | |
| ENST00000463598.1:c.633+12_633+13insAAAACAAAA | ENSP00000420497.1:n.633+12_633+13insAAAACAAAA | |
| ENST00000464269.5:n.390+12_390+13insAAAACAAAA | ||
| ENST00000475968.5:n.594+12_594+13insAAAACAAAA | ||
| ENST00000476124.1:n.116+12_116+13insAAAACAAAA | ||
| ENST00000476536.5:n.677+12_677+13insAAAACAAAA | ||
| ENST00000477732.5:n.502+3195_502+3196insAAAACAAAA | ||
| ENST00000479716.5:n.238+12_238+13insAAAACAAAA | ||
| ENST00000481249.5:n.594+12_594+13insAAAACAAAA | ||
| ENST00000485738.5:n.694+12_694+13insAAAACAAAA | ||
| ENST00000487478.5:n.141+12_141+13insAAAACAAAA | ||
| NM_001039375.2:c.633+12_633+13insAAAACAAAA | NP_001034464.1:n.633+12_633+13insAAAACAAAA | |
| NM_024120.4:c.717+12_717+13insAAAACAAAA | NP_077025.2:n.717+12_717+13insAAAACAAAA | |
| NR_029377.1:n.760+12_760+13insAAAACAAAA | ||
| XM_006723620.2:c.717+12_717+13insAAAACAAAA | XP_006723683.1:n.717+12_717+13insAAAACAAAA | |
| XM_006723622.2:c.246+12_246+13insAAAACAAAA | XP_006723685.1:n.246+12_246+13insAAAACAAAA | |
| XM_006723623.1:c.246+12_246+13insAAAACAAAA | XP_006723686.1:n.246+12_246+13insAAAACAAAA | |
| XM_006723624.1:c.246+12_246+13insAAAACAAAA | XP_006723687.1:n.246+12_246+13insAAAACAAAA | |
| XM_011529341.1:c.717+12_717+13insAAAACAAAA | XP_011527643.1:n.717+12_717+13insAAAACAAAA | |
| XM_011529342.1:c.717+12_717+13insAAAACAAAA | XP_011527644.1:n.717+12_717+13insAAAACAAAA | |
| XM_011529343.1:c.717+12_717+13insAAAACAAAA | XP_011527645.1:n.717+12_717+13insAAAACAAAA | |
| XM_011529344.1:c.348+12_348+13insAAAACAAAA | XP_011527646.1:n.348+12_348+13insAAAACAAAA | |
| XR_430269.2:n.737+12_737+13insAAAACAAAA | ||
| XR_937140.1:n.737+12_737+13insAAAACAAAA | ||
| NM_001352403.1:c.246+12_246+13insAAAACAAAA | NP_001339332.1:n.246+12_246+13insAAAACAAAA | |
| NM_001352406.1:c.156+12_156+13insAAAACAAAA | NP_001339335.1:n.156+12_156+13insAAAACAAAA | |
| NM_001352407.1:c.156+12_156+13insAAAACAAAA | NP_001339336.1:n.156+12_156+13insAAAACAAAA | |
| NM_001352408.1:c.717+12_717+13insAAAACAAAA | NP_001339337.1:n.717+12_717+13insAAAACAAAA | |
| NR_147978.1:n.760+12_760+13insAAAACAAAA | ||
| NR_147979.1:n.780+12_780+13insAAAACAAAA | ||
| NR_147980.1:n.656+12_656+13insAAAACAAAA | ||
| NR_147981.1:n.894+12_894+13insAAAACAAAA | ||
| NR_147982.1:n.894+12_894+13insAAAACAAAA | ||
| NR_147983.1:n.810+12_810+13insAAAACAAAA | ||
| XM_006723624.2:c.246+12_246+13insAAAACAAAA | XP_006723687.1:n.246+12_246+13insAAAACAAAA | |
| XM_011529342.2:c.717+12_717+13insAAAACAAAA | XP_011527644.1:n.717+12_717+13insAAAACAAAA | |
| XM_024451999.1:c.246+12_246+13insAAAACAAAA | XP_024307767.1:n.246+12_246+13insAAAACAAAA | |
| XR_001754396.1:n.676+12_676+13insAAAACAAAA | ||
| XR_430269.3:n.737+12_737+13insAAAACAAAA | ||
| XR_937140.2:n.737+12_737+13insAAAACAAAA | ||
| NM_024120.5:c.717+12_717+13insAAAACAAAA MANE Select | NP_077025.2:n.717+12_717+13insAAAACAAAA | |
| NM_001039375.3:c.633+12_633+13insAAAACAAAA | NP_001034464.1:n.633+12_633+13insAAAACAAAA | |
| NM_001352403.2:c.246+12_246+13insAAAACAAAA | NP_001339332.1:n.246+12_246+13insAAAACAAAA | |
| NM_001352406.2:c.156+12_156+13insAAAACAAAA | NP_001339335.1:n.156+12_156+13insAAAACAAAA | |
| NM_001352407.2:c.156+12_156+13insAAAACAAAA | NP_001339336.1:n.156+12_156+13insAAAACAAAA | |
| NR_029377.2:n.758+12_758+13insAAAACAAAA | ||
| NR_147978.2:n.758+12_758+13insAAAACAAAA | ||
| NR_147979.2:n.778+12_778+13insAAAACAAAA | ||
| NR_147980.2:n.654+12_654+13insAAAACAAAA | ||
| NR_147981.2:n.892+12_892+13insAAAACAAAA | ||
| NR_147982.2:n.892+12_892+13insAAAACAAAA | ||
| NR_147983.2:n.808+12_808+13insAAAACAAAA | ||
| NM_001352408.2:c.717+12_717+13insAAAACAAAA | NP_001339337.1:n.717+12_717+13insAAAACAAAA |