Linked Data
dbSNP Id:
rs1456149380
gnomAD v2:
20-62045598-T-TCCCGGG
gnomAD v4:
20-63414245-T-TCCCGGG
MyVariant Identifiers:
chr20:g.62045598_62045599insCCCGGG (hg19)
chr20:g.63414245_63414246insCCCGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63414246_63414251dup , CM000682.2:g.63414246_63414251dup | GRCh38 |
| NC_000020.10:g.62045599_62045604dup , CM000682.1:g.62045599_62045604dup | GRCh37 |
| NC_000020.9:g.61516043_61516048dup | NCBI36 |
| NG_009004.1:g.63390_63395dup | |
| NG_009004.2:g.63390_63395dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1472-58_1472-53dup | ENSP00000516702.1:n.1472-58_1472-53dup | |
| ENST00000359125.7:c.1526-58_1526-53dup MANE Select | ENSP00000352035.2:n.1526-58_1526-53dup | |
| ENST00000637193.1:c.923-58_923-53dup | ENSP00000490734.1:n.923-58_923-53dup | |
| ENST00000344462.8:c.1436-61_1436-56dup | ENSP00000339611.4:n.1436-61_1436-56dup | |
| ENST00000357249.6:c.1094-58_1094-53dup | ENSP00000349789.3:n.1094-58_1094-53dup | |
| ENST00000359125.6:c.1526-58_1526-53dup | ENSP00000352035.2:n.1526-58_1526-53dup | |
| ENST00000360480.7:c.1442-58_1442-53dup | ENSP00000353668.3:n.1442-58_1442-53dup | |
| ENST00000370224.5:c.1442-58_1442-53dup | ENSP00000359244.2:n.1442-58_1442-53dup | |
| ENST00000625514.2:c.1406-58_1406-53dup | ENSP00000486040.1:n.1406-58_1406-53dup | |
| ENST00000626839.2:c.1472-58_1472-53dup | ENSP00000486706.1:n.1472-58_1472-53dup | |
| ENST00000627221.2:c.586-61_586-56dup | ||
| ENST00000629241.2:c.1442-58_1442-53dup | ENSP00000487142.1:n.1442-58_1442-53dup | |
| ENST00000629318.1:c.134-58_134-53dup | ENSP00000487384.1:n.134-58_134-53dup | |
| ENST00000629676.2:c.1442-58_1442-53dup | ENSP00000486194.1:n.1442-58_1442-53dup | |
| NM_004518.4:c.1442-58_1442-53dup | NP_004509.2:n.1442-58_1442-53dup | |
| NM_172106.1:c.1472-58_1472-53dup | NP_742104.1:n.1472-58_1472-53dup | |
| NM_172107.2:c.1526-58_1526-53dup | NP_742105.1:n.1526-58_1526-53dup | |
| NM_172108.3:c.1436-61_1436-56dup | NP_742106.1:n.1436-61_1436-56dup | |
| XM_006723787.1:c.1526-58_1526-53dup | XP_006723850.1:n.1526-58_1526-53dup | |
| XM_011528807.1:c.1526-58_1526-53dup | XP_011527109.1:n.1526-58_1526-53dup | |
| XM_011528808.1:c.1526-61_1526-56dup | XP_011527110.1:n.1526-61_1526-56dup | |
| XM_011528809.1:c.1496-58_1496-53dup | XP_011527111.1:n.1496-58_1496-53dup | |
| XM_011528810.1:c.1472-58_1472-53dup | XP_011527112.1:n.1472-58_1472-53dup | |
| XM_011528811.1:c.1442-58_1442-53dup | XP_011527113.1:n.1442-58_1442-53dup | |
| XM_011528812.1:c.1526-61_1526-56dup | XP_011527114.1:n.1526-61_1526-56dup | |
| XM_011528813.1:c.1400-58_1400-53dup | XP_011527115.1:n.1400-58_1400-53dup | |
| XM_011528814.1:c.1007-58_1007-53dup | XP_011527116.1:n.1007-58_1007-53dup | |
| XM_011528815.1:c.1526-58_1526-53dup | XP_011527117.1:n.1526-58_1526-53dup | |
| NM_004518.5:c.1442-58_1442-53dup | NP_004509.2:n.1442-58_1442-53dup | |
| NM_172106.2:c.1472-58_1472-53dup | NP_742104.1:n.1472-58_1472-53dup | |
| NM_172107.3:c.1526-58_1526-53dup | NP_742105.1:n.1526-58_1526-53dup | |
| NM_172108.4:c.1436-61_1436-56dup | NP_742106.1:n.1436-61_1436-56dup | |
| XM_011528810.2:c.1472-58_1472-53dup | XP_011527112.1:n.1472-58_1472-53dup | |
| XM_011528811.2:c.1442-58_1442-53dup | XP_011527113.1:n.1442-58_1442-53dup | |
| XM_017027841.2:c.1472-61_1472-56dup | XP_016883330.1:n.1472-61_1472-56dup | |
| XM_017027842.2:c.1472-58_1472-53dup | XP_016883331.1:n.1472-58_1472-53dup | |
| XM_017027843.1:c.1403-58_1403-53dup | XP_016883332.1:n.1403-58_1403-53dup | |
| XM_017027844.2:c.1472-61_1472-56dup | XP_016883333.1:n.1472-61_1472-56dup | |
| XM_017027845.1:c.434-58_434-53dup | XP_016883334.1:n.434-58_434-53dup | |
| NM_004518.6:c.1442-58_1442-53dup | NP_004509.2:n.1442-58_1442-53dup | |
| NM_172106.3:c.1472-58_1472-53dup | NP_742104.1:n.1472-58_1472-53dup | |
| NM_172107.4:c.1526-58_1526-53dup MANE Select | NP_742105.1:n.1526-58_1526-53dup | |
| NM_172108.5:c.1436-61_1436-56dup | NP_742106.1:n.1436-61_1436-56dup | |
| NM_001382235.1:c.1472-58_1472-53dup | NP_001369164.1:n.1472-58_1472-53dup |