Linked Data
dbSNP Id:
rs780785043
ExAC:
5:118824863 A / ATATGTG
gnomAD v2:
5-118824863-A-ATATGTG
gnomAD v3:
5-119489168-A-ATATGTG
gnomAD v4:
5-119489168-A-ATATGTG
MyVariant Identifiers:
chr5:g.118824863_118824864insTATGTG (hg19)
chr5:g.119489168_119489169insTATGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119489172_119489177dup , CM000667.2:g.119489172_119489177dup | GRCh38 |
| NC_000005.9:g.118824867_118824872dup , CM000667.1:g.118824867_118824872dup | GRCh37 |
| NC_000005.8:g.118852766_118852771dup | NCBI36 |
| NG_008182.1:g.41720_41725dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.623-20_623-15dup | ENSP00000426272.2:n.623-20_623-15dup | |
| ENST00000518349.6:c.113-7371_113-7366dup | ENSP00000507185.1:n.113-7371_113-7366dup | |
| ENST00000682445.1:c.*504-20_*504-15dup | ENSP00000508061.1:n.*504-20_*504-15dup | |
| ENST00000682531.1:n.724-20_724-15dup | ||
| ENST00000682626.1:c.*129-20_*129-15dup | ENSP00000507857.1:n.*129-20_*129-15dup | |
| ENST00000682996.1:c.623-20_623-15dup | ENSP00000507792.1:n.623-20_623-15dup | |
| ENST00000683265.1:n.716-20_716-15dup | ||
| ENST00000683371.1:c.*753-20_*753-15dup | ENSP00000508376.1:n.*753-20_*753-15dup | |
| ENST00000683390.1:n.2313-20_2313-15dup | ||
| ENST00000683549.1:n.544-20_544-15dup | ||
| ENST00000683936.1:c.*508-20_*508-15dup | ENSP00000507721.1:n.*508-20_*508-15dup | |
| ENST00000683974.1:n.705-20_705-15dup | ||
| ENST00000683996.1:c.212-20_212-15dup | ENSP00000507060.1:n.212-20_212-15dup | |
| ENST00000684131.1:n.462-20_462-15dup | ||
| ENST00000684160.1:c.*313-20_*313-15dup | ENSP00000507821.1:n.*313-20_*313-15dup | |
| ENST00000684214.1:c.623-20_623-15dup | ENSP00000508071.1:n.623-20_623-15dup | |
| ENST00000414835.7:c.698-20_698-15dup | ENSP00000411960.3:n.698-20_698-15dup | |
| ENST00000510025.7:c.623-20_623-15dup MANE Select | ENSP00000424940.3:n.623-20_623-15dup | |
| ENST00000643250.1:c.*495-20_*495-15dup | ENSP00000494737.1:n.*495-20_*495-15dup | |
| ENST00000644146.1:c.*201-20_*201-15dup | ENSP00000494808.1:n.*201-20_*201-15dup | |
| ENST00000645099.1:c.182-20_182-15dup | ENSP00000496091.1:n.182-20_182-15dup | |
| ENST00000645702.1:c.*26-20_*26-15dup | ENSP00000496432.1:n.*26-20_*26-15dup | |
| ENST00000645832.1:c.*508-20_*508-15dup | ENSP00000494316.1:n.*508-20_*508-15dup | |
| ENST00000646058.1:c.623-20_623-15dup | ENSP00000493579.1:n.623-20_623-15dup | |
| ENST00000646355.1:c.*629-20_*629-15dup | ENSP00000493801.1:n.*629-20_*629-15dup | |
| ENST00000646554.1:c.*601-20_*601-15dup | ENSP00000494542.1:n.*601-20_*601-15dup | |
| ENST00000647335.1:c.*590-20_*590-15dup | ENSP00000495180.1:n.*590-20_*590-15dup | |
| ENST00000647342.1:c.*554-20_*554-15dup | ENSP00000494992.1:n.*554-20_*554-15dup | |
| ENST00000256216.10:c.623-20_623-15dup | ENSP00000256216.6:n.623-20_623-15dup | |
| ENST00000414835.6:c.203-20_203-15dup | ENSP00000411960.2:n.203-20_203-15dup | |
| ENST00000442060.7:c.623-20_623-15dup | ENSP00000390208.3:n.623-20_623-15dup | |
| ENST00000504811.5:c.698-20_698-15dup | ENSP00000420914.1:n.698-20_698-15dup | |
| ENST00000505181.5:n.326-20_326-15dup | ||
| ENST00000509514.5:c.-262-20_-262-15dup | ENSP00000426272.1:n.-262-20_-262-15dup | |
| ENST00000510025.5:c.551-20_551-15dup | ENSP00000424940.1:n.551-20_551-15dup | |
| ENST00000512644.1:n.191-20_191-15dup | ||
| ENST00000513628.5:c.212-20_212-15dup | ENSP00000425993.1:n.212-20_212-15dup | |
| ENST00000515235.6:n.683-20_683-15dup | ||
| ENST00000515320.5:c.569-20_569-15dup | ENSP00000424613.1:n.569-20_569-15dup | |
| NM_000414.3:c.623-20_623-15dup | NP_000405.1:n.623-20_623-15dup | |
| NM_001199291.2:c.698-20_698-15dup | NP_001186220.1:n.698-20_698-15dup | |
| NM_001199292.1:c.569-20_569-15dup | NP_001186221.1:n.569-20_569-15dup | |
| NM_001292027.1:c.551-20_551-15dup | NP_001278956.1:n.551-20_551-15dup | |
| NM_001292028.1:c.203-20_203-15dup | NP_001278957.1:n.203-20_203-15dup | |
| NM_000414.4:c.623-20_623-15dup MANE Select | NP_000405.1:n.623-20_623-15dup | |
| NM_001199291.3:c.698-20_698-15dup | NP_001186220.1:n.698-20_698-15dup | |
| NM_001199292.2:c.569-20_569-15dup | NP_001186221.1:n.569-20_569-15dup | |
| NM_001292027.2:c.551-20_551-15dup | NP_001278956.1:n.551-20_551-15dup | |
| NM_001292028.2:c.203-20_203-15dup | NP_001278957.1:n.203-20_203-15dup | |
| NM_001374497.1:c.614-20_614-15dup | NP_001361426.1:n.614-20_614-15dup | |
| NM_001374498.1:c.623-20_623-15dup | NP_001361427.1:n.623-20_623-15dup | |
| NM_001374499.1:c.296-20_296-15dup | NP_001361428.1:n.296-20_296-15dup | |
| NM_001374500.1:c.182-20_182-15dup | NP_001361429.1:n.182-20_182-15dup | |
| NM_001374501.1:c.212-20_212-15dup | NP_001361430.1:n.212-20_212-15dup | |
| NM_001374502.1:c.212-20_212-15dup | NP_001361431.1:n.212-20_212-15dup | |
| NM_001374503.1:c.212-20_212-15dup | NP_001361432.1:n.212-20_212-15dup | |
| NR_164653.1:n.702-20_702-15dup | ||
| NR_164654.1:n.890-20_890-15dup |