Linked Data
ClinVar Variation Id:
18093
dbSNP Id:
rs281865161
MyVariant Identifiers:
chr21:g.27269938_27269939delinsGA (hg19)
chr21:g.25897626_25897627delinsGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25897626_25897627delinsGA , CM000683.2:g.25897626_25897627delinsGA | GRCh38 |
| NC_000021.8:g.27269938_27269939delinsGA , CM000683.1:g.27269938_27269939delinsGA | GRCh37 |
| NC_000021.7:g.26191809_26191810delinsGA | NCBI36 |
| NG_007376.1:g.278194_278195delinsTC | |
| NG_007376.2:g.278502_278503delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.1977_1978delinsTC | ||
| ENST00000707133.1:n.407_408delinsTC | ||
| ENST00000707134.1:n.676_677delinsTC | ||
| ENST00000346798.8:c.2010_2011delinsTC MANE Select | ENSP00000284981.4:p.Lys670_Met671delinsAs... | |
| ENST00000346798.7:c.2010_2011delinsTC | ENSP00000284981.4:p.Lys670_Met671delinsAs... | |
| ENST00000348990.9:c.1785_1786delinsTC | ENSP00000345463.5:p.Lys595_Met596delinsAs... | |
| ENST00000354192.7:c.1617_1618delinsTC | ENSP00000346129.3:p.Lys539_Met540delinsAs... | |
| ENST00000357903.7:c.1953_1954delinsTC | ENSP00000350578.3:p.Lys651_Met652delinsAs... | |
| ENST00000358918.7:c.1956_1957delinsTC | ENSP00000351796.3:p.Lys652_Met653delinsAs... | |
| ENST00000359726.7:c.1680_1681delinsTC | ENSP00000352760.4:p.Lys560_Met561delinsAs... | |
| ENST00000439274.6:c.1842_1843delinsTC | ENSP00000398879.2:p.Lys614_Met615delinsAs... | |
| ENST00000440126.7:c.1938_1939delinsTC | ENSP00000387483.2:p.Lys646_Met647delinsAs... | |
| ENST00000464867.1:n.357_358delinsTC | ||
| NM_000484.3:c.2010_2011delinsTC | NP_000475.1:p.Lys670_Met671delinsAsnLeu | |
| NM_001136016.3:c.1938_1939delinsTC | NP_001129488.1:p.Lys646_Met647delinsAsnLe... | |
| NM_001136129.2:c.1617_1618delinsTC | NP_001129601.1:p.Lys539_Met540delinsAsnLe... | |
| NM_001136130.2:c.1842_1843delinsTC | NP_001129602.1:p.Lys614_Met615delinsAsnLe... | |
| NM_001136131.2:c.1680_1681delinsTC | NP_001129603.1:p.Lys560_Met561delinsAsnLe... | |
| NM_001204301.1:c.1956_1957delinsTC | NP_001191230.1:p.Lys652_Met653delinsAsnLe... | |
| NM_001204302.1:c.1899_1900delinsTC | NP_001191231.1:p.Lys633_Met634delinsAsnLe... | |
| NM_001204303.1:c.1731_1732delinsTC | NP_001191232.1:p.Lys577_Met578delinsAsnLe... | |
| NM_201413.2:c.1953_1954delinsTC | NP_958816.1:p.Lys651_Met652delinsAsnLeu | |
| NM_201414.2:c.1785_1786delinsTC | NP_958817.1:p.Lys595_Met596delinsAsnLeu | |
| NM_000484.4:c.2010_2011delinsTC MANE Select | NP_000475.1:p.Lys670_Met671delinsAsnLeu | |
| NM_001136129.3:c.1617_1618delinsTC | NP_001129601.1:p.Lys539_Met540delinsAsnLe... | |
| NM_001136130.3:c.1842_1843delinsTC | NP_001129602.1:p.Lys614_Met615delinsAsnLe... | |
| NM_001204301.2:c.1956_1957delinsTC | NP_001191230.1:p.Lys652_Met653delinsAsnLe... | |
| NM_001204302.2:c.1899_1900delinsTC | NP_001191231.1:p.Lys633_Met634delinsAsnLe... | |
| NM_001204303.2:c.1731_1732delinsTC | NP_001191232.1:p.Lys577_Met578delinsAsnLe... | |
| NM_201413.3:c.1953_1954delinsTC | NP_958816.1:p.Lys651_Met652delinsAsnLeu | |
| NM_201414.3:c.1785_1786delinsTC | NP_958817.1:p.Lys595_Met596delinsAsnLeu | |
| NM_001136131.3:c.1680_1681delinsTC | NP_001129603.1:p.Lys560_Met561delinsAsnLe... | |
| NM_001385253.1:c.1842_1843delinsTC | NP_001372182.1:p.Lys614_Met615delinsAsnLe... |