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 |
|---|---|---|---|---|---|
| 2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
| 2 | g.189005351del | CA1139657568 | COL3A1 | c.2834del c.2933del c.2527+2315del (n.2527+2315del) | ClinVar dbSNP |
| 2 | g.189005351G>A | CA005873 | COL3A1 | c.2834G>A (p.Gly945Asp) c.2933G>A (p.Gly978Asp) c.2527+2315G>A (n.2527+2315G>A) | ClinVar dbSNP |
| 2 | g.189005351G>C | CA349844677 | COL3A1 | c.2834G>C (p.Gly945Ala) c.2933G>C (p.Gly978Ala) c.2527+2315G>C (n.2527+2315G>C) | |
| 2 | g.189005351G= | CA1315403637 | COL3A1 | c.2834G= (p.Gly945=) c.2933G= (p.Gly978=) c.2527+2315G= (n.2527+2315G=) | |
| 2 | g.189005351G>T | CA349844676 | COL3A1 | c.2834G>T (p.Gly945Val) c.2933G>T (p.Gly978Val) c.2527+2315G>T (n.2527+2315G>T) | COSMIC |
| 2 | g.189005352T>A | CA430312429 | COL3A1 | c.2835T>A (p.Gly945=) c.2934T>A (p.Gly978=) c.2527+2316T>A (n.2527+2316T>A) | |
| 2 | g.189005352T>C | CA430312430 | COL3A1 | c.2835T>C (p.Gly945=) c.2934T>C (p.Gly978=) c.2527+2316T>C (n.2527+2316T>C) | dbSNP |
| 2 | g.189005352T>G | CA430312431 | COL3A1 | c.2835T>G (p.Gly945=) c.2934T>G (p.Gly978=) c.2527+2316T>G (n.2527+2316T>G) | |
| 2 | g.189005352T= | CA1315403638 | COL3A1 | c.2835T= (p.Gly945=) c.2934T= (p.Gly978=) c.2527+2316T= (n.2527+2316T=) | |
| 2 | g.189005353G>A | CA349844678 | COL3A1 | c.2836G>A (p.Glu946Lys) c.2935G>A (p.Glu979Lys) c.2527+2317G>A (n.2527+2317G>A) | |
| 2 | g.189005353G>C | CA349844679 | COL3A1 | c.2836G>C (p.Glu946Gln) c.2935G>C (p.Glu979Gln) c.2527+2317G>C (n.2527+2317G>C) | |
| 2 | g.189005353G= | CA1315403639 | COL3A1 | c.2836G= (p.Glu946=) c.2935G= (p.Glu979=) c.2527+2317G= (n.2527+2317G=) | |
| 2 | g.189005353G>T | CA005879 | COL3A1 | c.2836G>T (p.Glu946Ter) c.2935G>T (p.Glu979Ter) c.2527+2317G>T (n.2527+2317G>T) | ClinVar dbSNP |
| 2 | g.189005354A>C | CA349844680 | COL3A1 | c.2837A>C (p.Glu946Ala) c.2936A>C (p.Glu979Ala) c.2527+2318A>C (n.2527+2318A>C) | |
| 2 | g.189005354A>G | CA349844681 | COL3A1 | c.2837A>G (p.Glu946Gly) c.2936A>G (p.Glu979Gly) c.2527+2318A>G (n.2527+2318A>G) | |
| 2 | g.189005354A>T | CA349844682 | COL3A1 | c.2837A>T (p.Glu946Val) c.2936A>T (p.Glu979Val) c.2527+2318A>T (n.2527+2318A>T) | |
| 2 | g.189005355A>C | CA349844683 | COL3A1 | c.2838A>C (p.Glu946Asp) c.2937A>C (p.Glu979Asp) c.2527+2319A>C (n.2527+2319A>C) | gnomAD v4 |
| 2 | g.189005355A>G | CA430312435 | COL3A1 | c.2838A>G (p.Glu946=) c.2937A>G (p.Glu979=) c.2527+2319A>G (n.2527+2319A>G) | COSMIC |
| 2 | g.189005355A>T | CA349844684 | COL3A1 | c.2838A>T (p.Glu946Asp) c.2937A>T (p.Glu979Asp) c.2527+2319A>T (n.2527+2319A>T) | |
| 2 | g.189005356A>C | CA349844685 | COL3A1 | c.2839A>C (p.Ser947Arg) c.2938A>C (p.Ser980Arg) c.2527+2320A>C (n.2527+2320A>C) | |
| 2 | g.189005356A>G | CA349844686 | COL3A1 | c.2839A>G (p.Ser947Gly) c.2938A>G (p.Ser980Gly) c.2527+2320A>G (n.2527+2320A>G) | |
| 2 | g.189005356A>T | CA349844687 | COL3A1 | c.2839A>T (p.Ser947Cys) c.2938A>T (p.Ser980Cys) c.2527+2320A>T (n.2527+2320A>T) | |
| 2 | g.189005356_189005365delinsCGGTCT | CA2586965512 | COL3A1 | c.2839_2848delinsCGGTCT (p.Ser947ArgfsTer?) c.2938_2947delinsCGGTCT (p.Ser980ArgfsTer?) c.2527+2320_2527+2329delinsCGGTCT (n.2527+2320_2527+2329delinsCGGTCT) | |
| 2 | g.189005357G>A | CA349844690 | COL3A1 | c.2840G>A (p.Ser947Asn) c.2939G>A (p.Ser980Asn) c.2527+2321G>A (n.2527+2321G>A) | |
| 2 | g.189005357G>C | CA349844688 | COL3A1 | c.2840G>C (p.Ser947Thr) c.2939G>C (p.Ser980Thr) c.2527+2321G>C (n.2527+2321G>C) | |
| 2 | g.189005357G>T | CA349844689 | COL3A1 | c.2840G>T (p.Ser947Ile) c.2939G>T (p.Ser980Ile) c.2527+2321G>T (n.2527+2321G>T) | |
| 2 | g.189005357_189005365delinsCGGTCT | CA2586965513 | COL3A1 | c.2840_2848delinsCGGTCT (p.Ser947_Pro950delinsThrValSer) c.2939_2947delinsCGGTCT (p.Ser980_Pro983delinsThrValSer) c.2527+2321_2527+2329delinsCGGTCT (n.2527+2321_2527+2329delinsCGGTCT) | |
| 2 | g.189005358T>A | CA349844691 | COL3A1 | c.2841T>A (p.Ser947Arg) c.2940T>A (p.Ser980Arg) c.2527+2322T>A (n.2527+2322T>A) | |
| 2 | g.189005358T>C | CA430312441 | COL3A1 | c.2841T>C (p.Ser947=) c.2940T>C (p.Ser980=) c.2527+2322T>C (n.2527+2322T>C) | gnomAD v4 |
| 2 | g.189005358T>G | CA349844692 | COL3A1 | c.2841T>G (p.Ser947Arg) c.2940T>G (p.Ser980Arg) c.2527+2322T>G (n.2527+2322T>G) | |
| 2 | g.189005359G>A | CA005885 | COL3A1 | c.2842G>A (p.Gly948Arg) c.2941G>A (p.Gly981Arg) c.2527+2323G>A (n.2527+2323G>A) | ClinVar dbSNP |
| 2 | g.189005359G>C | CA005892 | COL3A1 | c.2842G>C (p.Gly948Arg) c.2941G>C (p.Gly981Arg) c.2527+2323G>C (n.2527+2323G>C) | ClinVar dbSNP |
| 2 | g.189005359G= | CA1315403640 | COL3A1 | c.2842G= (p.Gly948=) c.2941G= (p.Gly981=) c.2527+2323G= (n.2527+2323G=) | |
| 2 | g.189005359G>T | CA349844693 | COL3A1 | c.2842G>T (p.Gly948Trp) c.2941G>T (p.Gly981Trp) c.2527+2323G>T (n.2527+2323G>T) | |
| 2 | g.189005360G>A | CA349844694 | COL3A1 | c.2843G>A (p.Gly948Glu) c.2942G>A (p.Gly981Glu) c.2527+2324G>A (n.2527+2324G>A) | COSMIC |
| 2 | g.189005360G>C | CA349844695 | COL3A1 | c.2843G>C (p.Gly948Ala) c.2942G>C (p.Gly981Ala) c.2527+2324G>C (n.2527+2324G>C) | |
| 2 | g.189005360G>T | CA349844696 | COL3A1 | c.2843G>T (p.Gly948Val) c.2942G>T (p.Gly981Val) c.2527+2324G>T (n.2527+2324G>T) | |
| 2 | g.189005361G>A | CA430312445 | COL3A1 | c.2844G>A (p.Gly948=) c.2943G>A (p.Gly981=) c.2527+2325G>A (n.2527+2325G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.189005361G>C | CA430312446 | COL3A1 | c.2844G>C (p.Gly948=) c.2943G>C (p.Gly981=) c.2527+2325G>C (n.2527+2325G>C) | |
| 2 | g.189005361G>T | CA430312448 | COL3A1 | c.2844G>T (p.Gly948=) c.2943G>T (p.Gly981=) c.2527+2325G>T (n.2527+2325G>T) | |
| 2 | g.189005362A>C | CA349844697 | COL3A1 | c.2845A>C (p.Lys949Gln) c.2944A>C (p.Lys982Gln) c.2527+2326A>C (n.2527+2326A>C) | |
| 2 | g.189005362A>G | CA349844698 | COL3A1 | c.2845A>G (p.Lys949Glu) c.2944A>G (p.Lys982Glu) c.2527+2326A>G (n.2527+2326A>G) | |
| 2 | g.189005362A>T | CA349844699 | COL3A1 | c.2845A>T (p.Lys949Ter) c.2944A>T (p.Lys982Ter) c.2527+2326A>T (n.2527+2326A>T) | |
| 2 | g.189005363A>C | CA349844701 | COL3A1 | c.2846A>C (p.Lys949Thr) c.2945A>C (p.Lys982Thr) c.2527+2327A>C (n.2527+2327A>C) | |
| 2 | g.189005363A>G | CA349844702 | COL3A1 | c.2846A>G (p.Lys949Arg) c.2945A>G (p.Lys982Arg) c.2527+2327A>G (n.2527+2327A>G) | |
| 2 | g.189005363A>T | CA349844700 | COL3A1 | c.2846A>T (p.Lys949Ile) c.2945A>T (p.Lys982Ile) c.2527+2327A>T (n.2527+2327A>T) | |
| 2 | g.189005364A>C | CA349844703 | COL3A1 | c.2847A>C (p.Lys949Asn) c.2946A>C (p.Lys982Asn) c.2527+2328A>C (n.2527+2328A>C) | gnomAD v4 |