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 |
|---|---|---|---|---|---|
| X | g.108620289_108620312del | CA2580100187 | COL4A5 | c.2540_2563del (p.Asp847_Asp854del) n.1996_2019del c.2216_2239del (p.Asp739_Asp746del) c.113_136del (p.Asp38_Asp45del) c.2555_2578del (p.Asp852_Asp859del) c.875_898del (p.Asp292_Asp299del) | ClinVar |
| X | g.108620289_108620313delinsATCCAGGACCTCCTGGACTTGATGT | CA2450695936 | COL4A5 | c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp847=) n.1996_2020delinsATCCAGGACCTCCTGGACTTGATGT c.2216_2240delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp739=) c.113_137delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp38=) c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp852=) c.875_899delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp292=) | |
| X | g.108620299_108620322del | CA258704 | COL4A5 | c.2550_2573del (p.Pro851_Pro858del) n.2006_2029del c.2226_2249del (p.Pro743_Pro750del) c.123_146del (p.Pro42_Pro49del) c.2565_2588del (p.Pro856_Pro863del) c.885_908del (p.Pro296_Pro303del) | dbSNP |
| X | g.108620309G>A | CA413851350 | COL4A5 | c.2560G>A (p.Asp854Asn) n.2016G>A c.2236G>A (p.Asp746Asn) c.133G>A (p.Asp45Asn) c.2575G>A (p.Asp859Asn) c.895G>A (p.Asp299Asn) | |
| X | g.108620309G>C | CA413851351 | COL4A5 | c.2560G>C (p.Asp854His) n.2016G>C c.2236G>C (p.Asp746His) c.133G>C (p.Asp45His) c.2575G>C (p.Asp859His) c.895G>C (p.Asp299His) | |
| X | g.108620309G>T | CA413851352 | COL4A5 | c.2560G>T (p.Asp854Tyr) n.2016G>T c.2236G>T (p.Asp746Tyr) c.133G>T (p.Asp45Tyr) c.2575G>T (p.Asp859Tyr) c.895G>T (p.Asp299Tyr) | |
| X | g.108620310A= | CA2450695945 | COL4A5 | c.2561A= (p.Asp854=) n.2017A= c.2237A= (p.Asp746=) c.134A= (p.Asp45=) c.2576A= (p.Asp859=) c.896A= (p.Asp299=) | |
| X | g.108620310A>C | CA413851353 | COL4A5 | c.2561A>C (p.Asp854Ala) n.2017A>C c.2237A>C (p.Asp746Ala) c.134A>C (p.Asp45Ala) c.2576A>C (p.Asp859Ala) c.896A>C (p.Asp299Ala) | |
| X | g.108620310A>G | CA10488943 | COL4A5 | c.2561A>G (p.Asp854Gly) n.2017A>G c.2237A>G (p.Asp746Gly) c.134A>G (p.Asp45Gly) c.2576A>G (p.Asp859Gly) c.896A>G (p.Asp299Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108620310A>T | CA413851354 | COL4A5 | c.2561A>T (p.Asp854Val) n.2017A>T c.2237A>T (p.Asp746Val) c.134A>T (p.Asp45Val) c.2576A>T (p.Asp859Val) c.896A>T (p.Asp299Val) | |
| X | g.108620311T>A | CA413851355 | COL4A5 | c.2562T>A (p.Asp854Glu) n.2018T>A c.2238T>A (p.Asp746Glu) c.135T>A (p.Asp45Glu) c.2577T>A (p.Asp859Glu) c.897T>A (p.Asp299Glu) | |
| X | g.108620311T>C | CA10488944 | COL4A5 | c.2562T>C (p.Asp854=) n.2018T>C c.2238T>C (p.Asp746=) c.135T>C (p.Asp45=) c.2577T>C (p.Asp859=) c.897T>C (p.Asp299=) | dbSNP ExAC gnomAD v4 |
| X | g.108620311T>G | CA413851356 | COL4A5 | c.2562T>G (p.Asp854Glu) n.2018T>G c.2238T>G (p.Asp746Glu) c.135T>G (p.Asp45Glu) c.2577T>G (p.Asp859Glu) c.897T>G (p.Asp299Glu) | |
| X | g.108620311T= | CA2450695946 | COL4A5 | c.2562T= (p.Asp854=) n.2018T= c.2238T= (p.Asp746=) c.135T= (p.Asp45=) c.2577T= (p.Asp859=) c.897T= (p.Asp299=) | |
| X | g.108620312G>A | CA413851357 | COL4A5 | c.2563G>A (p.Val855Ile) n.2019G>A c.2239G>A (p.Val747Ile) c.136G>A (p.Val46Ile) c.2578G>A (p.Val860Ile) c.898G>A (p.Val300Ile) | |
| X | g.108620312G>C | CA413851358 | COL4A5 | c.2563G>C (p.Val855Leu) n.2019G>C c.2239G>C (p.Val747Leu) c.136G>C (p.Val46Leu) c.2578G>C (p.Val860Leu) c.898G>C (p.Val300Leu) | |
| X | g.108620312G>T | CA413851359 | COL4A5 | c.2563G>T (p.Val855Phe) n.2019G>T c.2239G>T (p.Val747Phe) c.136G>T (p.Val46Phe) c.2578G>T (p.Val860Phe) c.898G>T (p.Val300Phe) | |
| X | g.108620313T>A | CA413851360 | COL4A5 | c.2564T>A (p.Val855Asp) n.2020T>A c.2240T>A (p.Val747Asp) c.137T>A (p.Val46Asp) c.2579T>A (p.Val860Asp) c.899T>A (p.Val300Asp) | |
| X | g.108620313T>C | CA413851362 | COL4A5 | c.2564T>C (p.Val855Ala) n.2020T>C c.2240T>C (p.Val747Ala) c.137T>C (p.Val46Ala) c.2579T>C (p.Val860Ala) c.899T>C (p.Val300Ala) | |
| X | g.108620313T>G | CA413851361 | COL4A5 | c.2564T>G (p.Val855Gly) n.2020T>G c.2240T>G (p.Val747Gly) c.137T>G (p.Val46Gly) c.2579T>G (p.Val860Gly) c.899T>G (p.Val300Gly) | |
| X | g.108620314T>A | CA517924042 | COL4A5 | c.2565T>A (p.Val855=) n.2021T>A c.2241T>A (p.Val747=) c.138T>A (p.Val46=) c.2580T>A (p.Val860=) c.900T>A (p.Val300=) | |
| X | g.108620314T>C | CA517924044 | COL4A5 | c.2565T>C (p.Val855=) n.2021T>C c.2241T>C (p.Val747=) c.138T>C (p.Val46=) c.2580T>C (p.Val860=) c.900T>C (p.Val300=) | |
| X | g.108620314T>G | CA517924045 | COL4A5 | c.2565T>G (p.Val855=) n.2021T>G c.2241T>G (p.Val747=) c.138T>G (p.Val46=) c.2580T>G (p.Val860=) c.900T>G (p.Val300=) | |
| X | g.108620315C>A | CA413851363 | COL4A5 | c.2566C>A (p.Pro856Thr) n.2022C>A c.2242C>A (p.Pro748Thr) c.139C>A (p.Pro47Thr) c.2581C>A (p.Pro861Thr) c.901C>A (p.Pro301Thr) | |
| X | g.108620315C>G | CA413851364 | COL4A5 | c.2566C>G (p.Pro856Ala) n.2022C>G c.2242C>G (p.Pro748Ala) c.139C>G (p.Pro47Ala) c.2581C>G (p.Pro861Ala) c.901C>G (p.Pro301Ala) | |
| X | g.108620315C>T | CA413851365 | COL4A5 | c.2566C>T (p.Pro856Ser) n.2022C>T c.2242C>T (p.Pro748Ser) c.139C>T (p.Pro47Ser) c.2581C>T (p.Pro861Ser) c.901C>T (p.Pro301Ser) | |
| X | g.108620316del | CA2695235216 | COL4A5 | c.2567del (p.Pro856GlnfsTer19) n.2023del c.2243del (p.Pro748GlnfsTer19) c.140del (p.Pro47GlnfsTer19) c.2582del (p.Pro861GlnfsTer19) c.902del (p.Pro301GlnfsTer19) | |
| X | g.108620316C>A | CA413851366 | COL4A5 | c.2567C>A (p.Pro856Gln) n.2023C>A c.2243C>A (p.Pro748Gln) c.140C>A (p.Pro47Gln) c.2582C>A (p.Pro861Gln) c.902C>A (p.Pro301Gln) | |
| X | g.108620316C= | CA2450695947 | COL4A5 | c.2567C= (p.Pro856=) n.2023C= c.2243C= (p.Pro748=) c.140C= (p.Pro47=) c.2582C= (p.Pro861=) c.902C= (p.Pro301=) | |
| X | g.108620316C>G | CA413851367 | COL4A5 | c.2567C>G (p.Pro856Arg) n.2023C>G c.2243C>G (p.Pro748Arg) c.140C>G (p.Pro47Arg) c.2582C>G (p.Pro861Arg) c.902C>G (p.Pro301Arg) | |
| X | g.108620316C>T | CA413851368 | COL4A5 | c.2567C>T (p.Pro856Leu) n.2023C>T c.2243C>T (p.Pro748Leu) c.140C>T (p.Pro47Leu) c.2582C>T (p.Pro861Leu) c.902C>T (p.Pro301Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108620317A>C | CA517924056 | COL4A5 | c.2568A>C (p.Pro856=) n.2024A>C c.2244A>C (p.Pro748=) c.141A>C (p.Pro47=) c.2583A>C (p.Pro861=) c.903A>C (p.Pro301=) | |
| X | g.108620317A>G | CA517924052 | COL4A5 | c.2568A>G (p.Pro856=) n.2024A>G c.2244A>G (p.Pro748=) c.141A>G (p.Pro47=) c.2583A>G (p.Pro861=) c.903A>G (p.Pro301=) | gnomAD v4 |
| X | g.108620317A>T | CA517924053 | COL4A5 | c.2568A>T (p.Pro856=) n.2024A>T c.2244A>T (p.Pro748=) c.141A>T (p.Pro47=) c.2583A>T (p.Pro861=) c.903A>T (p.Pro301=) | |
| X | g.108620318G>A | CA413851369 | COL4A5 | c.2569G>A (p.Gly857Arg) n.2025G>A c.2245G>A (p.Gly749Arg) c.142G>A (p.Gly48Arg) c.2584G>A (p.Gly862Arg) c.904G>A (p.Gly302Arg) | |
| X | g.108620318G>C | CA413851370 | COL4A5 | c.2569G>C (p.Gly857Arg) n.2025G>C c.2245G>C (p.Gly749Arg) c.142G>C (p.Gly48Arg) c.2584G>C (p.Gly862Arg) c.904G>C (p.Gly302Arg) | |
| X | g.108620318G>T | CA413851371 | COL4A5 | c.2569G>T (p.Gly857Ter) n.2025G>T c.2245G>T (p.Gly749Ter) c.142G>T (p.Gly48Ter) c.2584G>T (p.Gly862Ter) c.904G>T (p.Gly302Ter) | |
| X | g.108620319G>A | CA413851372 | COL4A5 | c.2570G>A (p.Gly857Glu) n.2026G>A c.2246G>A (p.Gly749Glu) c.143G>A (p.Gly48Glu) c.2585G>A (p.Gly862Glu) c.905G>A (p.Gly302Glu) | |
| X | g.108620319G>C | CA413851373 | COL4A5 | c.2570G>C (p.Gly857Ala) n.2026G>C c.2246G>C (p.Gly749Ala) c.143G>C (p.Gly48Ala) c.2585G>C (p.Gly862Ala) c.905G>C (p.Gly302Ala) | |
| X | g.108620319G>T | CA413851374 | COL4A5 | c.2570G>T (p.Gly857Val) n.2026G>T c.2246G>T (p.Gly749Val) c.143G>T (p.Gly48Val) c.2585G>T (p.Gly862Val) c.905G>T (p.Gly302Val) | |
| X | g.108620320A= | CA2450695948 | COL4A5 | c.2571A= (p.Gly857=) n.2027A= c.2247A= (p.Gly749=) c.144A= (p.Gly48=) c.2586A= (p.Gly862=) c.906A= (p.Gly302=) | |
| X | g.108620320A>C | CA517924060 | COL4A5 | c.2571A>C (p.Gly857=) n.2027A>C c.2247A>C (p.Gly749=) c.144A>C (p.Gly48=) c.2586A>C (p.Gly862=) c.906A>C (p.Gly302=) | |
| X | g.108620320A>G | CA10488945 | COL4A5 | c.2571A>G (p.Gly857=) n.2027A>G c.2247A>G (p.Gly749=) c.144A>G (p.Gly48=) c.2586A>G (p.Gly862=) c.906A>G (p.Gly302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620320A>T | CA517924061 | COL4A5 | c.2571A>T (p.Gly857=) n.2027A>T c.2247A>T (p.Gly749=) c.144A>T (p.Gly48=) c.2586A>T (p.Gly862=) c.906A>T (p.Gly302=) | |
| X | g.108620321C>A | CA10488946 | COL4A5 | c.2572C>A (p.Pro858Thr) n.2028C>A c.2248C>A (p.Pro750Thr) c.145C>A (p.Pro49Thr) c.2587C>A (p.Pro863Thr) c.907C>A (p.Pro303Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108620321C= | CA2450695949 | COL4A5 | c.2572C= (p.Pro858=) n.2028C= c.2248C= (p.Pro750=) c.145C= (p.Pro49=) c.2587C= (p.Pro863=) c.907C= (p.Pro303=) | |
| X | g.108620321C>G | CA413851376 | COL4A5 | c.2572C>G (p.Pro858Ala) n.2028C>G c.2248C>G (p.Pro750Ala) c.145C>G (p.Pro49Ala) c.2587C>G (p.Pro863Ala) c.907C>G (p.Pro303Ala) | |
| X | g.108620321C>T | CA413851375 | COL4A5 | c.2572C>T (p.Pro858Ser) n.2028C>T c.2248C>T (p.Pro750Ser) c.145C>T (p.Pro49Ser) c.2587C>T (p.Pro863Ser) c.907C>T (p.Pro303Ser) | |
| X | g.108620325del | CA2579676515 | COL4A5 | c.2576del (p.Pro859GlnfsTer16) n.2032del c.2252del (p.Pro751GlnfsTer16) c.149del (p.Pro50GlnfsTer16) c.2591del (p.Pro864GlnfsTer16) c.911del (p.Pro304GlnfsTer16) | ClinVar |
| X | g.108620322C>A | CA413851377 | COL4A5 | c.2573C>A (p.Pro858His) n.2029C>A c.2249C>A (p.Pro750His) c.146C>A (p.Pro49His) c.2588C>A (p.Pro863His) c.908C>A (p.Pro303His) |