WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50189417_50189423delinsGGGCCAG | CA2263915657 | COL1A1 | c.2783_2789delinsCTGGCCC (p.Pro928=) c.2667+256_2667+262delinsCTGGCCC (n.2667+256_2667+262delinsCTGGCCC) c.1865_1871delinsCTGGCCC (p.Pro622=) c.2585_2591delinsCTGGCCC (p.Pro862=) | |
| 17 | g.50189419_50189427dup | CA2580094233 | COL1A1 | c.2781_2789dup (p.Pro930_Ala931insProGlyPro) c.2667+254_2667+262dup (n.2667+254_2667+262dup) c.1863_1871dup (p.Pro624_Ala625insProGlyPro) c.2583_2591dup (p.Pro864_Ala865insProGlyPro) | ClinVar |
| 17 | g.50189420_50189427del | CA2695226487 | COL1A1 | c.2782_2789del (p.Pro928CysfsTer10) c.2667+255_2667+262del (n.2667+255_2667+262del) c.1864_1871del (p.Pro622CysfsTer10) c.2584_2591del (p.Pro862CysfsTer10) | |
| 17 | g.50189418_50189423delinsCGCCA | CA658656704 | COL1A1 | c.2783_2788delinsTGGCG (p.Pro928LeufsTer?) c.2667+256_2667+261delinsTGGCG (n.2667+256_2667+261delinsTGGCG) c.1865_1870delinsTGGCG (p.Pro622LeufsTer?) c.2585_2590delinsTGGCG (p.Pro862LeufsTer?) | ClinVar dbSNP |
| 17 | g.50189419_50189428delinsGCCAGGGGGA | CA2263915658 | COL1A1 | c.2778_2787delinsTCCCCCTGGC (p.Gly926=) c.2667+251_2667+260delinsTCCCCCTGGC (n.2667+251_2667+260delinsTCCCCCTGGC) c.1860_1869delinsTCCCCCTGGC (p.Gly620=) c.2580_2589delinsTCCCCCTGGC (p.Gly860=) | |
| 17 | g.50189421dup | CA915950603 | COL1A1 | c.2786dup (p.Ala931CysfsTer10) c.2667+259dup (n.2667+259dup) c.1868dup (p.Ala625CysfsTer10) c.2588dup (p.Ala865CysfsTer10) | ClinVar dbSNP |
| 17 | g.50189421del | CA2695226488 | COL1A1 | c.2786del (p.Gly929AlafsTer?) c.2667+259del (n.2667+259del) c.1868del (p.Gly623AlafsTer?) c.2588del (p.Gly863AlafsTer?) | |
| 17 | g.50189432_50189440dup | CA658656705 | COL1A1 | c.2778_2786dup (p.Gly929_Pro930insProProGly) c.2667+251_2667+259dup (n.2667+251_2667+259dup) c.1860_1868dup (p.Gly623_Pro624insProProGly) c.2580_2588dup (p.Gly863_Pro864insProProGly) | ClinVar dbSNP |
| 17 | g.50189432_50189440del | CA915950604 | COL1A1 | c.2778_2786del (p.Pro927_Gly929del) c.2667+251_2667+259del (n.2667+251_2667+259del) c.1860_1868del (p.Pro621_Gly623del) c.2580_2588del (p.Pro861_Gly863del) | ClinVar dbSNP |
| 17 | g.50189421C>A | CA400205593 | COL1A1 | c.2785G>T (p.Gly929Cys) c.2667+258G>T (n.2667+258G>T) c.1867G>T (p.Gly623Cys) c.2587G>T (p.Gly863Cys) | |
| 17 | g.50189421C>G | CA400205597 | COL1A1 | c.2785G>C (p.Gly929Arg) c.2667+258G>C (n.2667+258G>C) c.1867G>C (p.Gly623Arg) c.2587G>C (p.Gly863Arg) | |
| 17 | g.50189421C>T | CA400205601 | COL1A1 | c.2785G>A (p.Gly929Ser) c.2667+258G>A (n.2667+258G>A) c.1867G>A (p.Gly623Ser) c.2587G>A (p.Gly863Ser) | COSMIC |
| 17 | g.50189421_50189422delinsCA | CA2263915660 | COL1A1 | c.2784_2785delinsTG (p.Pro928=) c.2667+257_2667+258delinsTG (n.2667+257_2667+258delinsTG) c.1866_1867delinsTG (p.Pro622=) c.2586_2587delinsTG (p.Pro862=) | |
| 17 | g.50189422del | CA291543187 | COL1A1 | c.2784del (p.Gly929AlafsTer?) c.2667+257del (n.2667+257del) c.1866del (p.Gly623AlafsTer?) c.2586del (p.Gly863AlafsTer?) | ClinVar dbSNP |
| 17 | g.50189422A= | CA2263915661 | COL1A1 | c.2784T= (p.Pro928=) c.2667+257T= (n.2667+257T=) c.1866T= (p.Pro622=) c.2586T= (p.Pro862=) | |
| 17 | g.50189422A>C | CA291543188 | COL1A1 | c.2784T>G (p.Pro928=) c.2667+257T>G (n.2667+257T>G) c.1866T>G (p.Pro622=) c.2586T>G (p.Pro862=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50189422A>G | CA500992082 | COL1A1 | c.2784T>C (p.Pro928=) c.2667+257T>C (n.2667+257T>C) c.1866T>C (p.Pro622=) c.2586T>C (p.Pro862=) | |
| 17 | g.50189422A>T | CA500992083 | COL1A1 | c.2784T>A (p.Pro928=) c.2667+257T>A (n.2667+257T>A) c.1866T>A (p.Pro622=) c.2586T>A (p.Pro862=) | |
| 17 | g.50189423G>A | CA400205604 | COL1A1 | c.2783C>T (p.Pro928Leu) c.2667+256C>T (n.2667+256C>T) c.1865C>T (p.Pro622Leu) c.2585C>T (p.Pro862Leu) | |
| 17 | g.50189423G>C | CA400205607 | COL1A1 | c.2783C>G (p.Pro928Arg) c.2667+256C>G (n.2667+256C>G) c.1865C>G (p.Pro622Arg) c.2585C>G (p.Pro862Arg) | gnomAD v4 |
| 17 | g.50189423G>T | CA400205605 | COL1A1 | c.2783C>A (p.Pro928His) c.2667+256C>A (n.2667+256C>A) c.1865C>A (p.Pro622His) c.2585C>A (p.Pro862His) | COSMIC |
| 17 | g.50189427del | CA2580094234 | COL1A1 | c.2783del (p.Pro928LeufsTer?) c.2667+256del (n.2667+256del) c.1865del (p.Pro622LeufsTer?) c.2585del (p.Pro862LeufsTer?) | ClinVar dbSNP |
| 17 | g.50189424G>A | CA400205610 | COL1A1 | c.2782C>T (p.Pro928Ser) c.2667+255C>T (n.2667+255C>T) c.1864C>T (p.Pro622Ser) c.2584C>T (p.Pro862Ser) | COSMIC |
| 17 | g.50189424G>C | CA400205612 | COL1A1 | c.2782C>G (p.Pro928Ala) c.2667+255C>G (n.2667+255C>G) c.1864C>G (p.Pro622Ala) c.2584C>G (p.Pro862Ala) | |
| 17 | g.50189424G>T | CA400205614 | COL1A1 | c.2782C>A (p.Pro928Thr) c.2667+255C>A (n.2667+255C>A) c.1864C>A (p.Pro622Thr) c.2584C>A (p.Pro862Thr) | |
| 17 | g.50189425G>A | CA500992087 | COL1A1 | c.2781C>T (p.Pro927=) c.2667+254C>T (n.2667+254C>T) c.1863C>T (p.Pro621=) c.2583C>T (p.Pro861=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50189425G>C | CA500992088 | COL1A1 | c.2781C>G (p.Pro927=) c.2667+254C>G (n.2667+254C>G) c.1863C>G (p.Pro621=) c.2583C>G (p.Pro861=) | |
| 17 | g.50189425G= | CA2263915662 | COL1A1 | c.2781C= (p.Pro927=) c.2667+254C= (n.2667+254C=) c.1863C= (p.Pro621=) c.2583C= (p.Pro861=) | |
| 17 | g.50189425G>T | CA500992089 | COL1A1 | c.2781C>A (p.Pro927=) c.2667+254C>A (n.2667+254C>A) c.1863C>A (p.Pro621=) c.2583C>A (p.Pro861=) | |
| 17 | g.50189426G>A | CA400205616 | COL1A1 | c.2780C>T (p.Pro927Leu) c.2667+253C>T (n.2667+253C>T) c.1862C>T (p.Pro621Leu) c.2582C>T (p.Pro861Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50189426G>C | CA400205618 | COL1A1 | c.2780C>G (p.Pro927Arg) c.2667+253C>G (n.2667+253C>G) c.1862C>G (p.Pro621Arg) c.2582C>G (p.Pro861Arg) | |
| 17 | g.50189426G= | CA2263915663 | COL1A1 | c.2780C= (p.Pro927=) c.2667+253C= (n.2667+253C=) c.1862C= (p.Pro621=) c.2582C= (p.Pro861=) | |
| 17 | g.50189426G>T | CA400205620 | COL1A1 | c.2780C>A (p.Pro927His) c.2667+253C>A (n.2667+253C>A) c.1862C>A (p.Pro621His) c.2582C>A (p.Pro861His) | |
| 17 | g.50189427G>A | CA8644683 | COL1A1 | c.2779C>T (p.Pro927Ser) c.2667+252C>T (n.2667+252C>T) c.1861C>T (p.Pro621Ser) c.2581C>T (p.Pro861Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50189427G>C | CA400205624 | COL1A1 | c.2779C>G (p.Pro927Ala) c.2667+252C>G (n.2667+252C>G) c.1861C>G (p.Pro621Ala) c.2581C>G (p.Pro861Ala) | |
| 17 | g.50189427G= | CA2263915664 | COL1A1 | c.2779C= (p.Pro927=) c.2667+252C= (n.2667+252C=) c.1861C= (p.Pro621=) c.2581C= (p.Pro861=) | |
| 17 | g.50189427G>T | CA400205625 | COL1A1 | c.2779C>A (p.Pro927Thr) c.2667+252C>A (n.2667+252C>A) c.1861C>A (p.Pro621Thr) c.2581C>A (p.Pro861Thr) | |
| 17 | g.50189428A>C | CA500992092 | COL1A1 | c.2778T>G (p.Gly926=) c.2667+251T>G (n.2667+251T>G) c.1860T>G (p.Gly620=) c.2580T>G (p.Gly860=) | gnomAD v4 |
| 17 | g.50189428A>G | CA500992094 | COL1A1 | c.2778T>C (p.Gly926=) c.2667+251T>C (n.2667+251T>C) c.1860T>C (p.Gly620=) c.2580T>C (p.Gly860=) | dbSNP |
| 17 | g.50189428A>T | CA500992095 | COL1A1 | c.2778T>A (p.Gly926=) c.2667+251T>A (n.2667+251T>A) c.1860T>A (p.Gly620=) c.2580T>A (p.Gly860=) | |
| 17 | g.50189429C>A | CA400205627 | COL1A1 | c.2777G>T (p.Gly926Val) c.2667+250G>T (n.2667+250G>T) c.1859G>T (p.Gly620Val) c.2579G>T (p.Gly860Val) | |
| 17 | g.50189429C>G | CA400205629 | COL1A1 | c.2777G>C (p.Gly926Ala) c.2667+250G>C (n.2667+250G>C) c.1859G>C (p.Gly620Ala) c.2579G>C (p.Gly860Ala) | |
| 17 | g.50189429C>T | CA400205631 | COL1A1 | c.2777G>A (p.Gly926Asp) c.2667+250G>A (n.2667+250G>A) c.1859G>A (p.Gly620Asp) c.2579G>A (p.Gly860Asp) | |
| 17 | g.50189430C>A | CA257836 | COL1A1 | c.2776G>T (p.Gly926Cys) c.2667+249G>T (n.2667+249G>T) c.1858G>T (p.Gly620Cys) c.2578G>T (p.Gly860Cys) | ClinVar dbSNP |
| 17 | g.50189430C= | CA2263915666 | COL1A1 | c.2776G= (p.Gly926=) c.2667+249G= (n.2667+249G=) c.1858G= (p.Gly620=) c.2578G= (p.Gly860=) | |
| 17 | g.50189430C>G | CA400205635 | COL1A1 | c.2776G>C (p.Gly926Arg) c.2667+249G>C (n.2667+249G>C) c.1858G>C (p.Gly620Arg) c.2578G>C (p.Gly860Arg) | |
| 17 | g.50189430C>T | CA400205633 | COL1A1 | c.2776G>A (p.Gly926Ser) c.2667+249G>A (n.2667+249G>A) c.1858G>A (p.Gly620Ser) c.2578G>A (p.Gly860Ser) | |
| 17 | g.50189430_50189431delinsCA | CA2263915665 | COL1A1 | c.2775_2776delinsTG (p.Pro925=) c.2667+248_2667+249delinsTG (n.2667+248_2667+249delinsTG) c.1857_1858delinsTG (p.Pro619=) c.2577_2578delinsTG (p.Pro859=) | |
| 17 | g.50189431del | CA10581579 | COL1A1 | c.2775del (p.Gly926ValfsTer?) c.2667+248del (n.2667+248del) c.1857del (p.Gly620ValfsTer?) c.2577del (p.Gly860ValfsTer?) | ClinVar dbSNP |
| 17 | g.50189431A>C | CA500992103 | COL1A1 | c.2775T>G (p.Pro925=) c.2667+248T>G (n.2667+248T>G) c.1857T>G (p.Pro619=) c.2577T>G (p.Pro859=) |