UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104064487del | CA2695212701 | COL17A1 | c.718del (p.Thr240ProfsTer?) n.833del c.670del (p.Thr224ProfsTer?) n.63del | |
| 10 | g.104064487T>A | CA471338822 | COL17A1 | c.717A>T (p.Thr239=) n.832A>T c.669A>T (p.Thr223=) n.62A>T | |
| 10 | g.104064487T>C | CA471338823 | COL17A1 | c.717A>G (p.Thr239=) n.832A>G c.669A>G (p.Thr223=) n.62A>G | |
| 10 | g.104064487T>G | CA471338824 | COL17A1 | c.717A>C (p.Thr239=) n.832A>C c.669A>C (p.Thr223=) n.62A>C | |
| 10 | g.104064488G>A | CA378077294 | COL17A1 | c.716C>T (p.Thr239Ile) n.831C>T c.668C>T (p.Thr223Ile) n.61C>T | |
| 10 | g.104064488G>C | CA378077293 | COL17A1 | c.716C>G (p.Thr239Arg) n.831C>G c.668C>G (p.Thr223Arg) n.61C>G | |
| 10 | g.104064488G>T | CA378077292 | COL17A1 | c.716C>A (p.Thr239Lys) n.831C>A c.668C>A (p.Thr223Lys) n.61C>A | gnomAD v4 |
| 10 | g.104064489T>A | CA378077296 | COL17A1 | c.715A>T (p.Thr239Ser) n.830A>T c.667A>T (p.Thr223Ser) n.60A>T | gnomAD v4 |
| 10 | g.104064489T>C | CA378077298 | COL17A1 | c.715A>G (p.Thr239Ala) n.830A>G c.667A>G (p.Thr223Ala) n.60A>G | |
| 10 | g.104064489T>G | CA378077300 | COL17A1 | c.715A>C (p.Thr239Pro) n.830A>C c.667A>C (p.Thr223Pro) n.60A>C | |
| 10 | g.104064490C>A | CA378077301 | COL17A1 | c.714G>T (p.Met238Ile) n.829G>T c.666G>T (p.Met222Ile) n.59G>T | |
| 10 | g.104064490C= | CA1933374486 | COL17A1 | c.714G= (p.Met238=) n.829G= c.666G= (p.Met222=) n.59G= | |
| 10 | g.104064490C>G | CA378077303 | COL17A1 | c.714G>C (p.Met238Ile) n.829G>C c.666G>C (p.Met222Ile) n.59G>C | |
| 10 | g.104064490C>T | CA212425512 | COL17A1 | c.714G>A (p.Met238Ile) n.829G>A c.666G>A (p.Met222Ile) n.59G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064490_104064491insGCCGT | CA2559023116 | COL17A1 | c.713_714insACGGC (p.Met238IlefsTer?) n.828_829insACGGC c.665_666insACGGC (p.Met222IlefsTer?) n.58_59insACGGC | |
| 10 | g.104064491A>C | CA378077304 | COL17A1 | c.713T>G (p.Met238Arg) n.828T>G c.665T>G (p.Met222Arg) n.58T>G | |
| 10 | g.104064491A>G | CA378077308 | COL17A1 | c.713T>C (p.Met238Thr) n.828T>C c.665T>C (p.Met222Thr) n.58T>C | |
| 10 | g.104064491A>T | CA378077306 | COL17A1 | c.713T>A (p.Met238Lys) n.828T>A c.665T>A (p.Met222Lys) n.58T>A | |
| 10 | g.104064492T>A | CA378077309 | COL17A1 | c.712A>T (p.Met238Leu) n.827A>T c.664A>T (p.Met222Leu) n.57A>T | |
| 10 | g.104064492T>C | CA378077310 | COL17A1 | c.712A>G (p.Met238Val) n.827A>G c.664A>G (p.Met222Val) n.57A>G | |
| 10 | g.104064492T>G | CA5679323 | COL17A1 | c.712A>C (p.Met238Leu) n.827A>C c.664A>C (p.Met222Leu) n.57A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104064492T= | CA1933374487 | COL17A1 | c.712A= (p.Met238=) n.827A= c.664A= (p.Met222=) n.57A= | |
| 10 | g.104064498_104064500del | CA2610805434 | COL17A1 | c.710_712del (p.Asn237del) n.825_827del c.662_664del (p.Asn221del) n.55_57del | gnomAD v4 |
| 10 | g.104064492_104064493insC | CA2546263780 | COL17A1 | c.711_712insG (p.Met238AspfsTer?) n.826_827insG c.663_664insG (p.Met222AspfsTer?) n.56_57insG | |
| 10 | g.104064493G>A | CA471338825 | COL17A1 | c.711C>T (p.Asn237=) n.826C>T c.663C>T (p.Asn221=) n.56C>T | ClinVar gnomAD v4 |
| 10 | g.104064493G>C | CA378077312 | COL17A1 | c.711C>G (p.Asn237Lys) n.826C>G c.663C>G (p.Asn221Lys) n.56C>G | |
| 10 | g.104064493G>T | CA378077314 | COL17A1 | c.711C>A (p.Asn237Lys) n.826C>A c.663C>A (p.Asn221Lys) n.56C>A | |
| 10 | g.104064494T>A | CA378077316 | COL17A1 | c.710A>T (p.Asn237Ile) n.825A>T c.662A>T (p.Asn221Ile) n.55A>T | |
| 10 | g.104064494T>C | CA212425516 | COL17A1 | c.710A>G (p.Asn237Ser) n.825A>G c.662A>G (p.Asn221Ser) n.55A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064494T>G | CA378077317 | COL17A1 | c.710A>C (p.Asn237Thr) n.825A>C c.662A>C (p.Asn221Thr) n.55A>C | |
| 10 | g.104064494T= | CA1933374488 | COL17A1 | c.710A= (p.Asn237=) n.825A= c.662A= (p.Asn221=) n.55A= | |
| 10 | g.104064495T>A | CA378077320 | COL17A1 | c.709A>T (p.Asn237Tyr) n.824A>T c.661A>T (p.Asn221Tyr) n.54A>T | |
| 10 | g.104064495T>C | CA378077321 | COL17A1 | c.709A>G (p.Asn237Asp) n.824A>G c.661A>G (p.Asn221Asp) n.54A>G | dbSNP gnomAD v2 |
| 10 | g.104064495T>G | CA378077323 | COL17A1 | c.709A>C (p.Asn237His) n.824A>C c.661A>C (p.Asn221His) n.54A>C | |
| 10 | g.104064495T= | CA1933374489 | COL17A1 | c.709A= (p.Asn237=) n.824A= c.661A= (p.Asn221=) n.54A= | |
| 10 | g.104064495_104064496insAAAAAA | CA2571109654 | COL17A1 | c.708_709insTTTTTT (p.Asn236_Asn237insPhePhe) n.823_824insTTTTTT c.660_661insTTTTTT (p.Asn220_Asn221insPhePhe) n.53_54insTTTTTT | |
| 10 | g.104064496G>A | CA5679325 | COL17A1 | c.708C>T (p.Asn236=) n.823C>T c.660C>T (p.Asn220=) n.53C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104064496G>C | CA378077326 | COL17A1 | c.708C>G (p.Asn236Lys) n.823C>G c.660C>G (p.Asn220Lys) n.53C>G | |
| 10 | g.104064496G= | CA1933374490 | COL17A1 | c.708C= (p.Asn236=) n.823C= c.660C= (p.Asn220=) n.53C= | |
| 10 | g.104064496G>T | CA5679324 | COL17A1 | c.708C>A (p.Asn236Lys) n.823C>A c.660C>A (p.Asn220Lys) n.53C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104064497T>A | CA378077328 | COL17A1 | c.707A>T (p.Asn236Ile) n.822A>T c.659A>T (p.Asn220Ile) n.52A>T | |
| 10 | g.104064497T>C | CA378077329 | COL17A1 | c.707A>G (p.Asn236Ser) n.822A>G c.659A>G (p.Asn220Ser) n.52A>G | |
| 10 | g.104064497T>G | CA378077331 | COL17A1 | c.707A>C (p.Asn236Thr) n.822A>C c.659A>C (p.Asn220Thr) n.52A>C | |
| 10 | g.104064498T>A | CA378077332 | COL17A1 | c.706A>T (p.Asn236Tyr) n.821A>T c.658A>T (p.Asn220Tyr) n.51A>T | |
| 10 | g.104064498T>C | CA378077334 | COL17A1 | c.706A>G (p.Asn236Asp) n.821A>G c.658A>G (p.Asn220Asp) n.51A>G | |
| 10 | g.104064498T>G | CA378077335 | COL17A1 | c.706A>C (p.Asn236His) n.821A>C c.658A>C (p.Asn220His) n.51A>C | |
| 10 | g.104064499G>A | CA5679326 | COL17A1 | c.705C>T (p.His235=) n.820C>T c.657C>T (p.His219=) n.50C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.104064499G>C | CA378077337 | COL17A1 | c.705C>G (p.His235Gln) n.820C>G c.657C>G (p.His219Gln) n.50C>G | gnomAD v4 |
| 10 | g.104064499G= | CA1933374491 | COL17A1 | c.705C= (p.His235=) n.820C= c.657C= (p.His219=) n.50C= | |
| 10 | g.104064499G>T | CA378077339 | COL17A1 | c.705C>A (p.His235Gln) n.820C>A c.657C>A (p.His219Gln) n.50C>A |