Linked Data
dbSNP Id:
rs1231264460
gnomAD v2:
20-62070203-A-ACACCCC
gnomAD v3:
20-63438850-A-ACACCCC
gnomAD v4:
20-63438850-A-ACACCCC
MyVariant Identifiers:
chr20:g.62070203_62070204insCACCCC (hg19)
chr20:g.63438850_63438851insCACCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63438852_63438857dup , CM000682.2:g.63438852_63438857dup | GRCh38 |
| NC_000020.10:g.62070205_62070210dup , CM000682.1:g.62070205_62070210dup | GRCh37 |
| NC_000020.9:g.61540649_61540654dup | NCBI36 |
| NG_009004.1:g.38785_38790dup | |
| NG_009004.2:g.38785_38790dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.928-136_928-131dup | ENSP00000516702.1:n.928-136_928-131dup | |
| ENST00000344425.8:c.928-136_928-131dup | ENSP00000345523.5:n.928-136_928-131dup | |
| ENST00000359125.7:c.928-136_928-131dup MANE Select | ENSP00000352035.2:n.928-136_928-131dup | |
| ENST00000636255.1:n.666-136_666-131dup | ||
| ENST00000637193.1:c.409-136_409-131dup | ENSP00000490734.1:n.409-136_409-131dup | |
| ENST00000344425.7:c.928-136_928-131dup | ENSP00000345523.5:n.928-136_928-131dup | |
| ENST00000344462.8:c.928-136_928-131dup | ENSP00000339611.4:n.928-136_928-131dup | |
| ENST00000357249.6:c.586-136_586-131dup | ENSP00000349789.3:n.586-136_586-131dup | |
| ENST00000359125.6:c.928-136_928-131dup | ENSP00000352035.2:n.928-136_928-131dup | |
| ENST00000360480.7:c.928-136_928-131dup | ENSP00000353668.3:n.928-136_928-131dup | |
| ENST00000370221.3:n.1054-136_1054-131dup | ||
| ENST00000370224.5:c.928-136_928-131dup | ENSP00000359244.2:n.928-136_928-131dup | |
| ENST00000625514.2:c.928-136_928-131dup | ENSP00000486040.1:n.928-136_928-131dup | |
| ENST00000626684.1:c.293-136_293-131dup | ||
| ENST00000626839.2:c.928-136_928-131dup | ENSP00000486706.1:n.928-136_928-131dup | |
| ENST00000627221.2:c.72-136_72-131dup | ||
| ENST00000629241.2:c.928-136_928-131dup | ENSP00000487142.1:n.928-136_928-131dup | |
| ENST00000629498.2:c.431-166_431-161dup | ENSP00000486509.1:n.431-166_431-161dup | |
| ENST00000629676.2:c.928-136_928-131dup | ENSP00000486194.1:n.928-136_928-131dup | |
| ENST00000630274.2:n.753-136_753-131dup | ||
| NM_004518.4:c.928-136_928-131dup | NP_004509.2:n.928-136_928-131dup | |
| NM_172106.1:c.928-136_928-131dup | NP_742104.1:n.928-136_928-131dup | |
| NM_172107.2:c.928-136_928-131dup | NP_742105.1:n.928-136_928-131dup | |
| NM_172108.3:c.928-136_928-131dup | NP_742106.1:n.928-136_928-131dup | |
| NM_172109.1:c.928-136_928-131dup | NP_742107.1:n.928-136_928-131dup | |
| XM_006723787.1:c.928-136_928-131dup | XP_006723850.1:n.928-136_928-131dup | |
| XM_011528807.1:c.928-136_928-131dup | XP_011527109.1:n.928-136_928-131dup | |
| XM_011528808.1:c.928-136_928-131dup | XP_011527110.1:n.928-136_928-131dup | |
| XM_011528809.1:c.928-136_928-131dup | XP_011527111.1:n.928-136_928-131dup | |
| XM_011528810.1:c.928-136_928-131dup | XP_011527112.1:n.928-136_928-131dup | |
| XM_011528811.1:c.928-136_928-131dup | XP_011527113.1:n.928-136_928-131dup | |
| XM_011528812.1:c.928-136_928-131dup | XP_011527114.1:n.928-136_928-131dup | |
| XM_011528813.1:c.802-136_802-131dup | XP_011527115.1:n.802-136_802-131dup | |
| XM_011528814.1:c.409-136_409-131dup | XP_011527116.1:n.409-136_409-131dup | |
| XM_011528815.1:c.928-136_928-131dup | XP_011527117.1:n.928-136_928-131dup | |
| XM_011528816.1:c.928-136_928-131dup | XP_011527118.1:n.928-136_928-131dup | |
| NM_004518.5:c.928-136_928-131dup | NP_004509.2:n.928-136_928-131dup | |
| NM_172106.2:c.928-136_928-131dup | NP_742104.1:n.928-136_928-131dup | |
| NM_172107.3:c.928-136_928-131dup | NP_742105.1:n.928-136_928-131dup | |
| NM_172108.4:c.928-136_928-131dup | NP_742106.1:n.928-136_928-131dup | |
| NM_172109.2:c.928-136_928-131dup | NP_742107.1:n.928-136_928-131dup | |
| XM_011528810.2:c.928-136_928-131dup | XP_011527112.1:n.928-136_928-131dup | |
| XM_011528811.2:c.928-136_928-131dup | XP_011527113.1:n.928-136_928-131dup | |
| XM_017027841.2:c.928-136_928-131dup | XP_016883330.1:n.928-136_928-131dup | |
| XM_017027842.2:c.928-136_928-131dup | XP_016883331.1:n.928-136_928-131dup | |
| XM_017027843.1:c.859-136_859-131dup | XP_016883332.1:n.859-136_859-131dup | |
| XM_017027844.2:c.928-136_928-131dup | XP_016883333.1:n.928-136_928-131dup | |
| NM_004518.6:c.928-136_928-131dup | NP_004509.2:n.928-136_928-131dup | |
| NM_172106.3:c.928-136_928-131dup | NP_742104.1:n.928-136_928-131dup | |
| NM_172107.4:c.928-136_928-131dup MANE Select | NP_742105.1:n.928-136_928-131dup | |
| NM_172108.5:c.928-136_928-131dup | NP_742106.1:n.928-136_928-131dup | |
| NM_172109.3:c.928-136_928-131dup | NP_742107.1:n.928-136_928-131dup | |
| NM_001382235.1:c.928-136_928-131dup | NP_001369164.1:n.928-136_928-131dup |